Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

被引：11

作者：

Kotzot, D

Haberlandt, E

Fauth, C

Baumgartner, S

Scholl-Bürgi, S

Utermann, G

机构：

[1] Med Univ Innsbruck, Inst Med Biol & Human Genet, A-6020 Innsbruck, Austria

[2] Med Univ Innsbruck, Clin Dept Pediat, A-6020 Innsbruck, Austria

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 135A卷 / 03期

关键词：

del(18)(q12.2q21.1); formation; parental origin;

D O I：

10.1002/ajmg.a.30727

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Monosomy of 18q12.3 has been reported in only 16 cases, in one as a mosaic with a normal cell line. Abnormal behaviour, developmental delay, normal measurements, and minor facial anomalies including ptosis, bilateral epicanthus, strabismus, short and slightly down-slanting palpebral fissures, and full cheeks are characteristic manifestations. We report on a 26-month-old girl with del(18)(q12.2q21.1) and typical phenotype. Microsatellite mediated haplotype analysis showed approximately 12 Mb deletion and demonstrated that the deletion was most likely formed during paternal meiosis by a rearrangement between the grandpaternal sister chromatids. (c) 2005 Wiley-Liss, Inc.

引用

页码：304 / 307

页数：4

共 24 条

[1] High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions [J].