A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate.-猫眼课题宝

一种新的部分三体12p，有动脉导管迷走神经、先天性白内障、外耳道、无鼻甲。

DOI：

10.1016/j.gene.2012.07.052

发表时间：

2012

期刊：

Gene

影响因子：

3.5

通讯作者：

中科院分区：

生物学3区

文献类型：

作者：

Yanhui Liu;R. Xie;Xiao;S. Wei;Yi He;Wang;Yangyang Lin;F. Xiong

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35weeks. The karyotype was unusual, with 46, XY, der (6), t (6;12) (p24; p12) mat. The pregnancy was terminated at 37 gestational weeks. The aborted fetus displayed dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, short nose, broad and depressed nasal bridge, anteverted nares, deformed philtrum, open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. Fetal anatomy showed right artery catheter vagus, congenital cataract, no turbinate and external auditory canals. Through karyotype–phenotype analysis of this patient and a review of other reported cases, we believe this is a first report that expands the database of partial trisomy 12p, and is beneficial for future clinical genetic counseling. This study supports that phenotypic variability depends on the type and extent of the associated partial monosomy.