TY - JOUR
T1 - Subtelomeric deletions of chromosome 9q
T2 - A novel microdeletion syndrome
AU - Stewart, Douglas R.
AU - Huang, Alina
AU - Faravelli, Francesca
AU - Anderlid, Britt Marie
AU - Medne, Livija
AU - Ciprero, Karen
AU - Kaur, Maninder
AU - Rossi, Elena
AU - Tenconi, Romano
AU - Nordenskjöld, Magnus
AU - Gripp, Karen W.
AU - Nicholson, Linda
AU - Meschino, Wendy S.
AU - Capua, Esther
AU - Quarrell, Oliver W.J.
AU - Flint, Jonathon
AU - Irons, Mira
AU - Giampietro, Philip F.
AU - Schowalter, David B.
AU - Zaleski, Christina A.
AU - Malacarne, Michela
AU - Zackai, Elaine H.
AU - Spinner, Nancy B.
AU - Krantz, Ian D.
PY - 2004/8/1
Y1 - 2004/8/1
N2 - 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.
AB - 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.
KW - Chromosome 9
KW - Subtelomeric deletion
KW - Syndrome
UR - https://www.scopus.com/pages/publications/3342894655
U2 - 10.1002/ajmg.a.30136
DO - 10.1002/ajmg.a.30136
M3 - Article
C2 - 15264279
AN - SCOPUS:3342894655
SN - 1552-4825
VL - 128 A
SP - 340
EP - 351
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -