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Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome
Author(s) -
Stewart Douglas R.,
Huang Alina,
Faravelli Francesca,
Anderlid BrittMarie,
Medne Livija,
Ciprero Karen,
Kaur Maninder,
Rossi Elena,
Tenconi Romano,
Nordenskjöld Magnus,
Gripp Karen W.,
Nicholson Linda,
Meschino Wendy S.,
Capua Esther,
Quarrell Oliver W.J.,
Flint Jonathon,
Irons Mira,
Giampietro Philip F.,
Schowalter David B.,
Zaleski Christina A.,
Malacarne Michela,
Zackai Elaine H.,
Spinner Nancy B.,
Krantz Ian D.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30136
Subject(s) - breakpoint , subtelomere , genetics , biology , genotyping , fluorescence in situ hybridization , chromosome , snp , comparative genomic hybridization , snp genotyping , snp array , karyotype , microsatellite , cytogenetics , single nucleotide polymorphism , genotype , gene , allele
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. © 2004 Wiley‐Liss, Inc.