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

doi:10.1002/ajmg.a.30136

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Article

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

American journal of medical genetics. Part A - 1 Aug 2004

Stewart Douglas R, Huang Alina, Faravelli Francesca, Anderlid Britt-Marie, 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

Abstract excerpt

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...

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PMID: 15264279
DOI: 10.1002/ajmg.a.30136

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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