APPARENT OPITZ BBBG SYNDROME WITH A PARTIAL DUPLICATION OF 5P

被引：21

作者：

LEICHTMAN, LG ^{[1
]}

WERNER, A ^{[1
]}

BASS, WT ^{[1
]}

SMITH, D ^{[1
]}

BROTHMAN, AR ^{[1
]}

机构：

[1] EASTERN VIRGINIA MED SCH,DEPT OBSTET & GYNECOL,DIV MATERNAL FETAL MED,NORFOLK,VA 23501

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 02期

关键词：

OPITZ-G SYNDROME; OPITZ-FRIAS SYNDROME; CHROMOSOME-5; PARTIAL TRISOMY; LARYNGEAL CLEFT; MULTIPLE CONGENITAL ANOMALIES; GENE LOCUS;

D O I：

10.1002/ajmg.1320400210

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.

引用

页码：173 / 176

页数：4

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