DENOVO INTERSTITIAL DELETION DEL(1)(P21P32)

被引：20

作者：

BENE, M

DUCAMARINESCU, D

IOAN, D

MAXIMILIAN, C

机构：

[1] INST ENDOCRINOL,71279 BLVD AVIATORILOR 34-36,R-76134 BUCURESTI,ROMANIA

[2] CHILDRENS HOSP,BRASOV,ROMANIA

来源：

JOURNAL OF MEDICAL GENETICS | 1979年 / 16卷 / 04期

关键词：

D O I：

10.1136/jmg.16.4.323

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1) (qter→p22::p32→pter).

引用

页码：323 / 327

页数：5

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