A 48,XXY,+21 DOWN-SYNDROME PATIENT WITH ADDITIONAL PATERNAL-X AND MATERNAL-21

被引：26

作者：

LORDASANCHEZ, I

PETERSEN, MB

BINKERT, F

MAECHLER, M

SCHMID, W

ADELSBERGER, PA

ANTONARAKIS, SE

SCHINZEL, A

机构：

[1] UNIV ZURICH,INST MED GENET,RAEMISTR 74,CH-8001 ZURICH,SWITZERLAND

[2] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,CTR MED GENET,BALTIMORE,MD 21205

来源：

HUMAN GENETICS | 1991年 / 87卷 / 01期

关键词：

D O I：

10.1007/BF01213092

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY, +21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events.

引用

页码：54 / 56

页数：3

共 19 条

[1]

ANTONARAKIS SE, 1991, IN PRESS N ENGL J ME

[2] GENETIC-CONTROL OF MEIOSIS [J].