MULTIPLE CRANIOFACIAL ANOMALIES ASSOCIATED WITH AN INTERSTITIAL DELETION OF CHROMOSOME 1(Q21-GREATER-THAN-Q25)

被引：13

作者：

LEICHTMAN, LG ^{[1
]}

STRUM, D ^{[1
]}

BROTHMAN, AR ^{[1
]}

机构：

[1] PORTSMOUTH GEN HOSP,DEPT PATHOL,PORTSMOUTH,VA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 06期

关键词：

DEL(1Q); MULTIPLE CONGENITAL ANOMALIES; PRENATAL DIAGNOSIS;

D O I：

10.1002/ajmg.1320450604

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a patient with an interstitial deletion of the chromosome 1q21->q25 that was diagnosed by amniocentesis. Significant malformations included: microbrachycephaly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia. The autopsy results demonstrate an overlap with several other postnatally ascertained patients and document the phenotype prenatally.

引用

页码：677 / 678

页数：2

共 6 条

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[4]

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[6] A NEW SYNDROME OF PROXIMAL DELETION OF THE LONG ARM OF CHROMOSOME-1 - 1Q21-23-]1Q25 [J].

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