Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
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.
Stewart
Douglas R
DR
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Huang
Alina
A
Faravelli
Francesca
F
Anderlid
Britt-Marie
BM
Medne
Livija
L
Ciprero
Karen
K
Kaur
Maninder
M
Rossi
Elena
E
Tenconi
Romano
R
Nordenskjöld
Magnus
M
Gripp
Karen W
KW
Nicholson
Linda
L
Meschino
Wendy S
WS
Capua
Esther
E
Quarrell
Oliver W J
OW
Flint
Jonathon
J
Irons
Mira
M
Giampietro
Philip F
PF
Schowalter
David B
DB
Zaleski
Christina A
CA
Malacarne
Michela
M
Zackai
Elaine H
EH
Spinner
Nancy B
NB
Krantz
Ian D
ID
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D015331:Cohort Studies; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome; D016615:Telomere