Case Report: Opitz C Syndrome with a Rare Chromosomal Abnormality

被引：1

作者：

Pokale, Yamini ^{[1
]}

Bansal, Priya ^{[1
]}

Vedpathak, Juilee ^{[1
]}

Kulkarni, Snehal ^{[1
]}

Vyas, Jaya ^{[1
]}

Vadera, Varsha ^{[1
]}

机构：

[1] Kokilaben Dhirubhai Ambani Hosp & Med Res Ctr, Bombay 400053, Maharashtra, India

来源：

INTERNATIONAL JOURNAL OF HUMAN GENETICS | 2014年 / 14卷 / 02期

关键词：

Trigonocephaly; Partial Trisomy 13; Polydactyly; Opitz C Syndrome; DELINEATION; PATIENT;

D O I：

10.1080/09723757.2014.11886228

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Opitz Trigonocephaly C syndrome (OTCS) or Opitz C Syndrome or C syndrome is a congenital malformation syndrome characterized by trigonocephaly, mental retardation and several other dysmorphic features. Commonly reported chromosomal abnormalities associated with trigonocephaly include 3q-, 7p-, 9p-, 11q-, and trisomy 13q. The present case report describes a patient with derivative 7, due to an unbalanced translocation t(7;13)(p22;q21), with a clinical phenotype of OTCS. To the best of researchers' knowledge, this is the second published case report on Opitz Trigonocephaly C syndrome with similar chromosomal abnormality from India.

引用

页码：67 / 71

页数：5

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