简要临床报告：4号染色体长臂间质缺失，del(4)(q28→q31.3) 。

Brief clinical report: interstitial deletion of the long arm of chromosome 4, del(4)(q28-->q31.3).

作者信息

Copelli S, del Rey G, Heinrich J, Coco R

机构信息

Division Endocrinologia, Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina.

出版信息

Am J Med Genet. 1995 Jan 2;55(1):77-9. doi: 10.1002/ajmg.1320550120.

DOI:10.1002/ajmg.1320550120

Abstract

Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation.

摘要

4号染色体长臂的间质性缺失很罕见。涉及不同的断点。只有一名患者的缺失与本病例非常相似。两人足月出生时体重均较低；体重、身长和头围低于第三百分位；内眦赘皮；明显低位的异常耳朵；鼻梁宽；小颌畸形；指甲发育不全；精神运动发育迟缓；以及轻度智力障碍。

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