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Fluorescent in situ hybridization (FISH) screening of subtelomeric rearrangements has resulted in the identification of previously unrecognized chromosomal causes of mental retardation with and without dysmorphic features. This article reports the phenotypic and molecular breakpoint characterization in a cohort of 12 patients with subtelomeric deletions of chromosome 9q34. The phenotypic findings are consistent amongst these individuals and consist of mental retardation, distinct facial features and congenital heart defects (primarily conotruncal defects). Detailed breakpoint mapping by FISH, microsatellite and single nucleotide polymorphism (SNP) genotyping analysis has narrowed the commonly deleted region to an approximately 1.2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval.

Original publication

DOI

10.1002/ajmg.a.30136

Type

Journal article

Journal

Am J Med Genet A

Publication Date

01/08/2004

Volume

128A

Pages

340 - 351

Keywords

Abnormalities, Multiple, Child, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 9, Cohort Studies, Cytogenetic Analysis, Female, Humans, Intellectual Disability, Male, Microcephaly, Microsatellite Repeats, Polymorphism, Single Nucleotide, Syndrome, Telomere