TRISOMY 13 MOSAIC PRESENTING AS CLEFT-LIP AND PALATE

被引：6

作者：

BEER, S

FRIED, K

KRESPIN, HI

ROSENBLATT, M

TIEDER, M

机构：

[1] TEL AVIV UNIV, ASAF HAROFE HOSP, SCH MED, DEPT PEDIAT, ZERIFIN, ISRAEL

[2] TEL AVIV UNIV, ASAF HAROFE HOSP, SCH MED, DEPT GENET, ZERIFIN, ISRAEL

来源：

HUMAN HEREDITY | 1976年 / 26卷 / 05期

关键词：

D O I：

10.1159/000152822

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A mosaic trisomy 13 presenting as a case of cleft lip and palate in the newborn is described. When the child was admitted to the hospital at the age of 6 wk because of failure to gain weight and a malformation of the great vessels was demonstrated, cytogenetic studies were carried out. The diagnosis of mosaic trisomy 13 (90% normal, 10% trisomic) was established from a leukocyte culture. Since mosaic trisomy 13 may occasionally mimic cleft lip and palate in the newborn, cytogenetic studies are indicated in the presence of any additional anomaly.

引用

页码：321 / 323

页数：3