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Genomic analysis of partial 21q monosomies with variable phenotypes.

ABSTRACT: Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. Cohort A consisted of three patients seen in our medical genetics clinics with partial chromosome 21 monosomies. In two of these patients having terminal deletions (21q22.2-ter and 21q22.3-ter), the breakpoints differed by at least 812?Kb of sequence, containing seven RefSeq genes. A third patient had an interstitial hemizygous loss of 16.4?Mb (21q21.1-q22.11). All three patients had relatively mild phenotypes. Cohort B consisted of seven patients with partial chromosome 21 monosomies who had a greater number of dysmorphic features and some major malformations; SNP genotypes were obtained from the Coriell Genetic Cell Repository. We also collected data on partial monsomy 21 cases from the DECIPHER database. This report of 10 new cases of 21q deletion and review of a total of 36 confirms that deletion of the terminal region is associated with a mild phenotype, but suggests that deletion of regions 1 and 2 is compatible with life and have a variable phenotype perhaps relating more to other genetic and environmental variables than to genes in the interval.

SUBMITTER: Roberson ED

PROVIDER: S-EPMC3025784 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature

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Genomic analysis of partial 21q monosomies with variable phenotypes.

Roberson Elisha D O ED Wohler Elizabeth Squibb ES Hoover-Fong Julie E JE Lisi Emily E Stevens Eric L EL Thomas George H GH Leonard Jay J Hamosh Ada A Pevsner Jonathan J

European journal of human genetics : EJHG 20100908 2

Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. Cohort A consisted of three patients seen in our medical genetics clinics with partial chromosome 21 monosomies. In two of these patients having terminal deletions (21q22.2-ter and 21q22.3-ter), the breakpoints differed by at least 812 Kb of sequence, containing seven RefSe ...[more]

PMID: 20823914

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Genomic analysis of partial 21q monosomies with variable phenotypes.

Publications

Genomic analysis of partial 21q monosomies with variable phenotypes.

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