Subtelomeric rearrangements detected in patients with idiopathic mental retardation

被引：121

作者：

Anderlid, BM

Schoumans, J

Annerén, G

Sahlén, S

Kyllerman, M

Vujic, M

Hagberg, B

Blennow, E

Nordenskjöld, M

机构：

[1] Karolinska Hosp, Dept Mol Med, CMM, Clin Genet Unit, S-17176 Stockholm, Sweden

[2] Uppsala Univ, Childrens Hosp, Dept Clin Genet, Uppsala, Sweden

[3] Univ Gothenburg, Queen Silvia Childrens Hosp, Sect Neuropediat, Gothenburg, Sweden

[4] Sahlgrens Univ Hosp, Dept Clin Genet, S-41345 Gothenburg, Sweden

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 107卷 / 04期

关键词：

mental retardation; FISH; SKY; subtelomeric; cryptic chromosomal aberration; chromosome deletion; chromosome translocation;

D O I：

10.1002/ajmg.10029

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation (MR) using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic rearrangements were found (9%): five de novo deletions; one unbalanced de novo translocation; three unbalanced inherited translocations; and one unbalanced recombinant chromosome, inherited from a parent with a pericentric inversion. In addition, 50 of the patients were screened for interstitial rearrangements with spectral karyotyping (SKY), but no aberrations were found. However, SKY detected the subtelomeric rearrangement in three of the four unbalanced translocations. Dysmorphic features were present in all patients with detected subtelomeric rearrangements. (C) 2001 Wiley-Liss, Inc.

引用

页码：275 / 284

页数：10

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