Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

被引：11

作者：

Chinen, Y

Tohma, T

Izumikawa, Y

Iha, T

Goya, Y

Naritomi, K

机构：

[1] Department of Pediatrics, University of the Ryukyus, School of Medicine, Nishihara, Okinawa 903-01

来源：

JAPANESE JOURNAL OF HUMAN GENETICS | 1996年 / 41卷 / 03期

关键词：

chromosomal aberration; 2q medial monosomy; encephalocele;

D O I：

10.1007/BF01913175

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a female infant with an interstitial deletion involving 2q24.3. She had multiple congenital anomalies similar to those in patients with del(2)(q31q33) except for an occipital encephalocele. As a result of comparison of clinical findings among interstitial 2q deletions, a distinct 2q medial monosomy syndrome may be delineable in association with a deletion of 2q31.

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收藏

页码：323 / 328

页数：6

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