...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.
【24h】

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

机译：单体型1p36的产前诊断：关注脑部异常和文献复习。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Monosomy 1p36 is an increasingly recognized chromosomal anomaly. We describe two patients with monosomy 1p36 who had brain abnormalities detected on prenatal ultrasound. The first patient was ascertained prenatally with ultrasound abnormalities, including ventriculomegaly, a single umbilical artery, a unilateral club foot, a ventricular septal defect, and intra-uterine growth retardation. Amniocentesis showed a normal karyotype. A postnatal MRI showed moderate to severe non-obstructive hydrocephalus, bilateral colpocephaly, and abnormal myelination of the anterior limb of the internal capsule. A postnatal karyotype demonstrated a deletion of 1p36.3 that was not detected prenatally due to low resolution. Molecular studies by array comparative genome hybridization (CGH) identified a terminal deletion of approximately 10 Mb. Our second patient was a fetus who had brain abnormalities suggestive of holoprosencephaly identified on prenatal ultrasound. Amniocentesis showed 46,XX,der(1)t(1;20)(p36.1;p12.2), that was found to be maternally inherited. Fetal autopsy demonstrated hydrocephalus, focal polymicrogyria, and cerebellar hypoplasia. However, holoprosencephaly was not confirmed. In addition to describing two patients with monosomy 1p36 who had abnormal brain anatomy on prenatal ultrasounds, we review the literature of other prenatally detected patients with monosomy 1p36 and review brain abnormalities seen both prenatally and postnatally.
机译：Monosomy 1p36是越来越多的公认的染色体异常。我们描述了两名1s36单体性患者，他们在产前超声检查中发现了脑部异常。第一名患者在产前被确认患有超声异常，包括脑室肥大，单条脐动脉，单侧马蹄内翻足，室间隔缺损和子宫内发育迟缓。羊膜穿刺术显示出正常的核型。产后MRI显示中度至重度无梗阻性脑积水，双侧头颅畸形和内囊前肢异常髓鞘化。出生后的核型显示1p36.3的缺失，由于分辨率低，在产前未检测到。通过阵列比较基因组杂交（CGH）进行的分子研究确定了大约10 Mb的末端缺失。我们的第二名患者是胎儿，其胎儿脑部异常提示在产前超声检查中发现全脑性头畸形。羊膜穿刺术显示46，XX，der（1）t（1; 20）（p36.1; p12.2），是母系遗传的。胎儿尸检显示脑积水，局灶性多尿性小脑和小脑发育不全。但是，未确认全脑前性。除了描述两名在产前超声检查中脑解剖结构异常的1p36单体患者之外，我们还回顾了其他在产前检测到的1p36单体患者的文献，并回顾了在产前和产后发现的脑部异常。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号