BROAD-SPECTRUM MOBIUS SYNDROME ASSOCIATED WITH A 1-11 CHROMOSOME-TRANSLOCATION

被引：38

作者：

DONAHUE, SP ^{[1
]}

WENGER, SL ^{[1
]}

STEELE, MW ^{[1
]}

GORIN, MB ^{[1
]}

机构：

[1] UNIV PITTSBURGH,SCH MED,EYE & EAR INST PITTSBURGH,DEPT OPHTHALMOL,203 LOTHROP ST,PITTSBURGH,PA 15213

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1993年 / 14卷 / 01期

关键词：

MOBIUS SYNDROME; POLAND ANOMALY; DEXTROCARDIA; MICROGNATHIA; CLEFT PALATE; CHROMOSOME TRANSLOCATION; UNIPARENTAL DISOMY;

D O I：

10.3109/13816819309087618

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

The authors report a case of Mobius syndrome with Poland syndrome, cleft palate, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss. Karyotype demonstrated a t(1;11)(p22;p13) translocation in the patient and his phenotypically normal father and brother. This case extends the spectrum of congenital disorders that are associated with Mobius syndrome and raises the possibility of genetic heterogeneity for the Mobius disorder.

引用

页码：17 / 21

页数：5

共 23 条

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