FISH DIAGNOSIS OF PARTIAL TRISOMY-13 AND TETRASOMY-13 IN A PATIENT WITH SEVERE TRIGONOCEPHALY-(C) PHENOTYPE

被引：19

作者：

CHU, TW

TEEBI, AS

GIBSON, L

BREG, WR

YANGFENG, TL

机构：

[1] Department of Genetics, Yale University School of Medicine, New Haven, CT 06510

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 01期

关键词：

TRIGONOCEPHALY; C-PHENOTYPE; FLUORESCENCE IN SITU HYBRIDIZATION; PARTIAL TRISOMY 13; PARTIAL TETRASOMY 13;

D O I：

10.1002/ajmg.1320520118

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An infant girl with manifestations resembling Opitz trigonocephaly (C) syndrome who died at age 6 days was found to have a complex chromosome abnormality with t(13;18)(q22;q23) and a recombinant chromosome 13 involving duplicated segments of 13q. Precise characterization was possible with the application of fluorescence in situ hybridization (FISH) using chromosome specific probes. The patient's phenotype is compared to that of other syndromes involving trigonocephaly. (C) 1994 Wiley-Liss, Inc.

引用

页码：92 / 96

页数：5

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