SAETHRE-CHOTZEN-SYNDROME ASSOCIATED WITH BALANCED TRANSLOCATIONS INVOLVING 7P21 - 3 FURTHER FAMILIES

被引：27

作者：

WILKIE, AOM

YANG, SP

SUMMERS, D

POOLE, MD

REARDON, W

WINTER, RM

机构：

[1] GRACE,PEDIAT,DAVIS,CA 95616

[2] QUEEN ELIZABETH HOSP CHILDREN,NE THAMES REG CYTOGENET SERV,LONDON,ENGLAND

[3] RADCLIFFE INFIRM,OXFORD CRANIOFACIAL UNIT,OXFORD OX2 6HE,ENGLAND

[4] INST CHILD HLTH,MOTHERCARE UNIT PAEDIAT GENET & FETAL MED,LONDON,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.32.3.174

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2), and t(5;7)(p15.3;p21.2). A total of seven apparently balanced carriers have been identified and all manifest features of the Saethre-Chotzen syndrome, although only two have overt craniosynostosis. In one family the carriers are immediately recognisable by their unusual ears, and clefts of the hard or soft palate are present in all three families. These observations extend previous linkage and cytogenetic evidence that a locus for Saethre-Chotzen syndrome resides in band 7p21.2.

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页码：174 / 180

页数：7

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