title: Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
abstract: 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.
authors.affiliation: Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Stewart
authors.forename: Alina
authors.initials: A
authors.lastname: Huang
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
authors.forename: Livija
authors.initials: L
authors.lastname: Medne
authors.forename: Karen
authors.initials: K
authors.lastname: Ciprero
authors.forename: Maninder
authors.initials: M
authors.lastname: Kaur
authors.forename: Elena
authors.initials: E
authors.lastname: Rossi
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Karen W
authors.initials: KW
authors.lastname: Gripp
authors.forename: Linda
authors.initials: L
authors.lastname: Nicholson
authors.forename: Wendy S
authors.initials: WS
authors.lastname: Meschino
authors.forename: Esther
authors.initials: E
authors.lastname: Capua
authors.forename: Oliver W J
authors.initials: OW
authors.lastname: Quarrell
authors.forename: Jonathon
authors.initials: J
authors.lastname: Flint
authors.forename: Mira
authors.initials: M
authors.lastname: Irons
authors.forename: Philip F
authors.initials: PF
authors.lastname: Giampietro
authors.forename: David B
authors.initials: DB
authors.lastname: Schowalter
authors.forename: Christina A
authors.initials: CA
authors.lastname: Zaleski
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Nancy B
authors.initials: NB
authors.lastname: Spinner
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
mesh_terms: 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