(Q33584413)

28 July 2017

1 reference

title

Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations (English)

1 reference

chromosomal translocation

28 July 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

20 April 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.16.6.467

20 April 2023

author name string

P. Jalbert

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

20 April 2023

B. Sele

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

20 April 2023

language of work or name

English

0 references

publication date

1 December 1979

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/395305/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

http://jmg.bmjjournals.com/cgi/content/abstract/16/6/467

20 April 2023

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/395305/?tool=EBI

20 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

https://europepmc.org/articles/PMC1012595

20 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

https://europepmc.org/articles/PMC1012595?pdf=render

20 April 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A395305

https://syndication.highwire.org/content/doi/10.1136/jmg.16.6.467

20 April 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.16.6.467

Journal of Medical Genetics

20 April 2023

published in

1 reference

28 July 2017

volume

16

1 reference

28 July 2017

issue

6

1 reference

28 July 2017

page(s)

467-478

1 reference

Chromosome segregation in translocations involving chromosome 6 in maize

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A new translocation between chromosomes in the 6-12 and 21-22 groups

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial Trisomy of the Long Arm of Chromosome No. 7

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Three translocations involving C- or G-group chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 9 in the case of familial translocation 8/9 mat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Familial translocation t(4;22) (p11;p12) and trisomy 4p in 2 sisters

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

[Partial trisomy 10q dueto familial translocation t(10q-; 22p-plus)]

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

T (14q-; 21q + ) translocation in the father. Partial trisomy 14 and monosomy 21 in the daughter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 4p with translocation 4p-, 22p+ in the father.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy for the short arm of chromosome No. 10.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Multiple congenital defects associated with trisomy for the short arm of chromosome 4.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Structural variation in chromosome No 9.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Chiasma distribution at diakinesis in the normal human male

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Craniorachischisis in a partially trisomic 11 fetus in a family with reproductive failure and a reciprocal translocation, t(6p plus;11q minus).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy of the long arm of chromosome 7

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Fetal loss and familial chromosome I translocations*

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy of the short arm of chromosome 10

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A family with an inherited translocation involving the no. 4/no. 21 chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Familial translocation, t(2;5) (p23; g31)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A case of trisomy 9p in a family with translocation 9/15

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A familial F/G translocation [t(20p-; 22q+)] observed in three generations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Two cases of 8p trisomy in one sibship

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Physical and mental defect of chromosomal origin in four individuals of the same family. Trisomy for the short arm of 9

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

21 June 2018

The 12p trisomy syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

2 cases of trisomy 11q(q231--qter) by translocation t(11;22) (q231;q111) in 2 different families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A case of partial trisomy 3q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Cri du chat syndrome and translocation t(5p--;18p+)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A 46,XY, del(18)(pter leads to p1 100:) cebocephalic child from a 46,XX,t(12;18)(18pter leads to 18 p 1100:: 12qter leads to 12pter) normal parent

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 4q syndrome: case report and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13)(p21;q21)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Multiple congenital defects associated with trisomy for long arm of No. 4

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 4q due to familial 2/4 translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 7p associated with familial 7p;22q translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy 9p. A case of translocation t(9;22) (p11;p11)mat in a little girl

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 22: a recognizable syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 14q due to familial t(14q-,11q+) translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 12p due to t(12;21)pat translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 10p and familial translocation t(7;10)(p22;p12)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

46, XY, t(3;22) (p2;q13) resulting in partial trisomy for the short arm of chromosome 3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 18 in a family with a translocation (18;21)(q21;q22)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 10p in two generations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 8 (trisomy 8q2106 leads to 8qter)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy 4p: five new observations and overview

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial duplication 5q syndrome: phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33 leads to 5qter and partial deficiency 8p23 leads to pter)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial monosomy and partial trisomy for different segments of chromosome 13 in several individuals of the same family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 10p of paternal origin. 2 new cases in 2 different families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 13 due to maternal translocation t(2;13)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Familial trisomy 20p five cases and two carriers in three generations a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Two new cases of trisomy 10q21 to 10qter in two sisters due to paternal translocation t(9;10) (q34;q24)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy 9p by mat. t(2;9)(q36;q31)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 14q and familial translocation (2;14) (q12;q13)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial 4q trisomy. Apropos of 3 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Reciprocal translocation, 4q-; 21p+, giving rise to Down's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Familial 'partial 9p' trisomy: six cases and four carriers in three generations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012595

PARTIAL TRISOMY-DEFICIENCY SYNDROME RESULTING FROM A RECIPROCAL TRANSLOCATION IN A LARGE KINDRED

21 June 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Familial translocation 3/22 MAT with partial trisomy 3q (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy for the short arm of chromosome No. 10

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 18qter and trisomy mapping of chromosome 18

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Studies of the meiotic behavior of a translocation t(10;13)(q25;q11) in an oligospermic man

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Cri-Du-Chat syndrome in a child with a 46,XX,der(5),t(4;5)(q32;p14)pat Karyotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

https://pubmed.ncbi.nlm.nih.gov/395305

1 reference

12 December 2020

Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

12P trisomy: a syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

2 cases of partial trisomy 10p due to a paternal translocation t(10p;18)(p13;q23)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 4p due to a paternal t(4p-;16p+) translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial trisomy 20p derived from a t(18;20) translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

[Giemsa-R-banding analysis of the trisomy 9p and report of a new case]

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Chromosome anomalies in three successive abortuses due to paternal translocation, t(13q–18q+)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Tertiary trisomy 14: is there a syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

https://pubmed.ncbi.nlm.nih.gov/395305

1 reference

12 December 2020

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21]

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial trisomy of 7q resulting from a familial translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial trisomy for the distal part of the short branch of chromosome 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Equilibrated 2-14 translocation in a mother and partial trisomy of a pair of the short branches of a number 2 chromosome in 2 of her children

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 9p : 2 further cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

[Trisomy 9p gy t(4; 9) (q 34; q21) mat]

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial trisomy of the long arm of the chromosme 11 by malsegregation of a maternal translocation t(11;22)(q23 1;q1 11)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Reciprocal translocation in the family of 2 prositas with partial trisomy of the chromosome 7q

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 10q24--10qter

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 11 q (q23.1 - qter) through maternal translocation t(11;22) (q23.1;q11.1). A new case

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 10 p. A previously reported case explained by binding

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

https://pubmed.ncbi.nlm.nih.gov/395305

1 reference

12 December 2020

[Partial trisomy 14q II.--Partial trisomy 14q due to a maternal t(12; 14) (q24.4; q21)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial 14q trisomy. I. Partial 14q trisomy by maternal translocation t(10;14) (p15.2;q22)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 4p in a family with A t(4;15)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial trisomy 2q and familial translocation t(2;12)(q31;q24)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 9p resulting from maternal 9/21 translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13)

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

The 9p trisomy syndrome: Two further cases arising from different familial translocations

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Reciprocal translocations

1 reference

https://pubmed.ncbi.nlm.nih.gov/395305

12 December 2020

Partial monosomy and partial trisomy for different segments of chromosome 13 in several individuals of the same family

series ordinal

147

1 reference

https://api.crossref.org/works/10.1136/JMG.16.6.467

20 April 2023

Identifiers

0 references

1 reference

28 July 2017

1 reference