(Q30854439)

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Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype

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Europe PubMed Central

PubMed publication ID

27 June 2017

Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 June 2017

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author name string

Barbi G

1

1 reference

Europe PubMed Central

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27 June 2017

Kennerknecht I

2

1 reference

Europe PubMed Central

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27 June 2017

Wöhr G

3

1 reference

Europe PubMed Central

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27 June 2017

Avramopoulos D

4

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Europe PubMed Central

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27 June 2017

Karadima G

5

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Europe PubMed Central

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27 June 2017

Petersen MB

6

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27 June 2017

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1 March 2000

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Europe PubMed Central

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27 June 2017

American Journal of Medical Genetics Part A

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27 June 2017

91

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Europe PubMed Central

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27 June 2017

2

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Europe PubMed Central

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27 June 2017

116-122

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27 June 2017

Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation.

1 reference

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A case of apparent trisomy 21 without the Down's syndrome phenotype

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Centromere DNA dynamics: latent centromeres and neocentromere formation

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Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies

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Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.

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The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

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Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

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Down syndrome phenotypes: the consequences of chromosomal imbalance

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A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes

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A simple salting out procedure for extracting DNA from human nucleated cells

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De novo 21q interstitial deletion in a retarded boy with ulno-fibular dysostosis.

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A stable marker chromosome with a cryptic centromere: evidence for centromeric sequences associated with an inverted duplication

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Microdissection of banded human chromosomes

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Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes

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An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences

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Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker

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Report of the Fifth International Workshop on Human Chromosome 21 Mapping 1994

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An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite

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Monosomy 21q: two cases of del(21q) and review of the literature.

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Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes

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Identifiers

10.1002/(SICI)1096-8628(20000313)91:2<116::AID-AJMG7>3.0.CO;2-Q

1 reference

Europe PubMed Central

PubMed publication ID

27 June 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 June 2017

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