Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

被引:17
作者
Bijlsma, EK
Knegt, AC
Bilardo, CM
Goodman, FR
机构
[1] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Dept Obstet, NL-1105 AZ Amsterdam, Netherlands
[3] Inst Child Hlth, Mol Med Unit, London, England
关键词
split-hand/foot malformation; nuchal translucency; 2q deletion; SHFM5; HOXD cluster;
D O I
10.1002/pd.1080
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Objectives To describe and discuss the clinical, cytogenetic and molecular findings in a fetus with the first prenatally detected interstitial deletion of chromosome 2q. Case Report A fetus with increased nuchal translucency on routine ultrasound examination at 13 weeks' gestation was found to have severe upper-limb abnormalities on follow-up ultrasound examination at 16 weeks. The pregnancy was terminated, and the autopsy revealed monodactyly of the right upper limb, oligodactyly of the left upper limb and bilateral split foot, as well as atrial and ventricular septal defects and mild facial dysmorphism. Results cytogenetic studies and haplotype analysis of the fetus and both parents showed that the fetus carried a de novo deletion encompassing a region of about 30 Mb on the paternal chromosome 2q (karyotype 46,XX,del(2)(q24.2-q32.2)). Conclusion This is the first instance of increased nuchal translucency associated with a chromosome 2q deletion. Moreover, the striking malformations affecting all four of the fetus' limbs support previous suggestions that a novel locus for split-hand/foot malformation (SHFM5) lies on chromosome 2q31. Copyright (C) 2005 John Wiley Sons, Ltd.
引用
收藏
页码:39 / 44
页数:6
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