COMPLETE AND PARTIAL XY SEX REVERSAL ASSOCIATED WITH TERMINAL DELETION OF 10Q - REPORT OF 2 CASES AND LITERATURE-REVIEW

被引:118
作者
WILKIE, AOM
CAMPBELL, FM
DAUBENEY, P
GRANT, DB
DANIELS, RJ
MULLARKEY, M
AFFARA, NA
FITCHETT, M
HUSON, SM
机构
[1] GUYS HOSP,DEPT MED & MOLEC GENET,LONDON SE1 9RT,ENGLAND
[2] UNIV CAMBRIDGE,DEPT PATHOL,CAMBRIDGE,ENGLAND
[3] HOSP SICK CHILDREN,DEPT PAEDIAT GENET,LONDON WC1N 3JH,ENGLAND
[4] HOSP SICK CHILDREN,DEPT FETAL MED,LONDON WC1N 3JH,ENGLAND
[5] CHURCHILL HOSP,DEPT MED GENET,OXFORD OX3 7LJ,ENGLAND
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 05期
关键词
MALE PSEUDOHERMAPHRODITISM; INTERSEX; SEX REVERSAL; CHROMOSOME 10Q DELETION;
D O I
10.1002/ajmg.1320460527
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,-10,+der(10)t (10;16)(q26.2;q21)] had an intersex phenotype. Of 8 males previously reported with terminal 10q deletion as the major or only cytogenetic abnormality, 2 had an intersex phenotype, and the others all had combinations of cryptorchidism, micropenis, and hypospadias. Terminal 10q deletions appear to be strongly associated with abnormal male genital development, and should be specifically searched for in the cytogenetic workup of such cases.
引用
收藏
页码:597 / 600
页数:4
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