MONOSOMY-21 - POSSIBLE STEPWISE EVOLUTION OF THE KARYOTYPE

被引：17

作者：

ABELIOVICH, D

CARMI, R

KARPLUS, M

BARZIV, J

COHEN, MM

机构：

[1] BEN GURION UNIV NEGEV,FAC HLTH SCI,SOROKA MED CTR,DEPT PEDIAT,BEER SHEVA 84120,ISRAEL

[2] BEN GURION UNIV NEGEV,FAC HLTH SCI,SOROKA MED CTR,NEONATAL INTENSIVE CARE UNIT,BEER SHEVA 84120,ISRAEL

[3] BEN GURION UNIV NEGEV,FAC HLTH SCI,SOROKA MED CTR,PEDIAT RADIOL UNIT,BEER SHEVA 84120,ISRAEL

[4] HEBREW UNIV JERUSALEM,HADASSAH HOSP & MED SCH,MED CTR,DEPT HUMAN GENET,JERUSALEM,ISRAEL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 4卷 / 03期

关键词：

D O I：

10.1002/ajmg.1320040311

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The authors describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis-like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for 3 different cell lines in the various tissues examined; 45,XX,-21/46,XX,del(21)(q11) 46,XX. The existence of these 3 lines suggests a possible explanation for the few cases of 'complete monosomy 21' which have been reported.

引用

页码：279 / 286

页数：8

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