Urofacial (Ochoa) Syndrome - A Case Report

被引：1
|
作者：
Yashwanth, Radhakrishnan [1 ]
Chandra, Nallathambi [1 ]
Mohandas, Palliath
Gopinath, Puthiya M. [1 ]
机构：
[1] Univ Madras, Dept Genet, Dr ALM Post Grad Inst Basic Med Sci, Chennai 600113, Tamil Nadu, India
来源：
INTERNATIONAL JOURNAL OF HUMAN GENETICS | 2010年 / 10卷 / 1-3期
关键词：
Ochoa Syndrome; Urofacial Syndrome; Facial Grimace; Chromosome Variant; GENETIC HOMOGENEITY; EXPRESSION; REGION;
D O I：
10.1080/09723757.2010.11886100
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Urofacial (Ochoa) syndrome is a very rare autosomal recessive disorder characterized by a peculiar inverted facial expression, mainly when smiling or crying and urinary abnormalities. A 5-year-old boy, born of non-consanguineous marriage presented with characteristic facial grimace, enuresis, constipation and delayed milestones. An evaluation of GIG banded metaphases revealed a normal karyotype with a paternally inherited variant chromosome 14 (14ps+). However, his father showed a normal phenotype. This is the first report of Ochoa syndrome from India.
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页码：165 / 168
页数：4
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