Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo

被引：0
|
作者：
Hubert, E.
Sawicka, A.
Wasilewska, E.
Midro, A. T.
机构：
[1] Med Univ Bialystok, Dept Clin Genet, PL-15089 Bialystok, Poland
[2] Med Acad Bialystok, Clin Maxillo Facial Surg, Bialystok, Poland
来源：
GENETIC COUNSELING | 2006年 / 17卷 / 02期
关键词：
trisomy; 4q; direct duplication 4q; craniofacial malformations;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27 -> q31.3) de novo: The phenotype of a girl at age of 12 years with a partial trisomy 4q caused by unique direct duplication 4q27 -> q31.3 included the thick, broad and straight eyebrows, upward slanting palpebral fissures, a deep-set eyes, narrow bridge and long back of the nose, flattened philtrum columns, narrow of vermilion borders of both upper and lower lips, protrusion of maxillary alveolar processus and anterior teeth together with shortened and posteriorly situated mandible, malocclusion corresponding with 11 class of Angle and long fingers, narrowing towards distal phalanges has been described. Further investigations are needed to delineate the clinical spectrum of features essential for partial trisomy 4q.
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收藏
页码：211 / 218
页数：8
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