DELETION (14) (Q24.3Q32.1) - EVIDENCE FOR A DISTINCT CLINICAL PHENOTYPE

被引：21

作者：

KARNITIS, SA ^{[1
]}

BURNS, K ^{[1
]}

SUDDUTH, KW ^{[1
]}

GOLDEN, WL ^{[1
]}

WILSON, WG ^{[1
]}

机构：

[1] UNIV VIRGINIA,HLTH SCI CTR,DEPT PEDIAT,BOX 386,CHARLOTTESVILLE,VA 22908

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 02期

关键词：

CHROMOSOME-14; DELETION; PHENOTYPE-KARYOTYPE CORRELATION; ALPHA-1-ANTITRYPSIN; ALPHA-1-ANTICHYMOTRYPSIN;

D O I：

10.1002/ajmg.1320440207

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 4-year-old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well-defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14) (pter-->q24.3::q32.1-->qter). Comparison with previously reported patients with deletions of 14q involving band 14q31 suggests that there is a distinctive clinical phenotype associated with this deletion. Our patient had dental abnormalities (3 maxillary and 3 mandibular incisors) not described in the other patients.

引用

页码：153 / 157

页数：5

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