TRISOMY-9 - AN ADDITIONAL CASE WITH UNIQUE MANIFESTATIONS

被引：8

作者：

DEMICHELENA, MI

SANCHEZ, R

MUNOZ, P

CABELLO, E

ROJAS, P

DEOLAZAVAL, E

机构：

[1] UNIV PERUANA CAYETANO HEREDIA,DEPT PEDIAT,LIMA 100,PERU

[2] UNIV PERUANA CAYETANO HEREDIA,DEPT STOMATOL,LIMA 100,PERU

[3] UNIV PERUANA CAYETANO HEREDIA,DEPT RADIOL,LIMA 100,PERU

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 04期

关键词：

CHROMOSOME ABNORMALITY; TRISOMY-9; MULTIPLE MALFORMATIONS;

D O I：

10.1002/ajmg.1320430409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on an infant with multiple congenital anomalies and mosaic trisomy 9. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macrocephaly, an extreme degree of palatal hypoplasia, and abnormally shaped long bones.

引用

页码：697 / 700

页数：4

共 7 条

[1] TRISOMY 9 MOSAICISM IN A NEWBORN-INFANT WITH MULTIPLE MALFORMATIONS [J].