Partial Trisomy 19p13.3 and Partial Monosomy 1p36.3: Clinical Report and a Literature Review

被引：7

作者：

Puvabanditsin, Surasak ^{[1
]}

Garrow, Eugene ^{[2
]}

Brandsma, Erik ^{[1
]}

Savla, Jayshree ^{[1
]}

Kunjumon, Bgee ^{[1
]}

Gadi, Inder ^{[3
]}

机构：

[1] UMDNJ RWJ Med Sch, Dept Pediat, New Brunswick, NJ 08903 USA

[2] Suny Downstate Med Ctr, Dept Surg, Brooklyn, NY 11203 USA

[3] Lab Corp Amer, Res Triangle Pk, NC USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 08期

关键词：

partial trisomy 19p; partial monosomy 1p36; short arm; deletion of chromosome; FISH; MENTAL-RETARDATION; IDENTIFICATION; PHENOTYPE; DELETIONS; PROBES;

D O I：

10.1002/ajmg.a.32972

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be similar to 3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3. (C) 2009 Wiley-Liss, Inc.

引用

页码：1782 / 1785

页数：4

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