Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Research Abstract Details 

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Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Abstract Text:

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.

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Publishing Authors By Initials

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Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: American journal of medical genetics. Part A

VOLUME: 128A

Page Numbers: 340-51

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 1

MONTH: Aug

YEAR: 2004

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 101235741

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Keywords Mesh Terms:

KEYWORDS: Telomere

MESH TERMS: pathology

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Grant and Affiliation Information for Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.

AFFILIATION: Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

Country: United States

AGENCY: United States NHLBI

GRANT: P50HL074731

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MEDLINETA: Am J Med Genet A

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