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.
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页码：697 / 700
页数：4
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