SEVERE MENTAL-RETARDATION IN A PATIENT WITH TRICHORHINOPHALANGEAL SYNDROME TYPE-I AND 8Q DELETION

被引：25

作者：

HAMERS, A

JONGBLOET, P

PEETERS, G

FRYNS, JP

GERAEDTS, J

机构：

[1] INST MENTALLY SUBNORMAL,OTTERSUM,NETHERLANDS

[2] CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,B-3000 LOUVAIN,BELGIUM

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1990年 / 149卷 / 09期

关键词：

Chromosomal deletion; Chromosome; 8; Multiple exostoses; Tricho-rhino-phalangeal syndrome;

D O I：

10.1007/BF02034746

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter→q23.3::q24.13→qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q. © 1990 Springer-Verlag.

引用

页码：618 / 620

页数：3

共 18 条

[1] CHROMOSOME DELETION AND MULTIPLE CARTILAGINOUS EXOSTOSES [J].