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.
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收藏
页码：304 / 307
页数：4
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