DELETION OF 16Q WITH PROLONGED SURVIVAL AND UNUSUAL RADIOGRAPHIC MANIFESTATIONS

被引：18

作者：

CASAMASSIMA, AC

KLEIN, RM

WILMOT, PL

BRENHOLZ, P

SHAPIRO, LR

机构：

[1] NEW YORK MED COLL,DEPT PEDIAT,VALHALLA,NY 10595

[2] NEW YORK MED COLL,DEPT RADIOL,VALHALLA,NY 10595

[3] NEW YORK MED COLL,DEPT PATHOL,VALHALLA,NY 10595

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 04期

关键词：

16q deletion syndrome; chromosome; 16; skeletal abnormalities;

D O I：

10.1002/ajmg.1320370414

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.

引用

页码：504 / 509

页数：6

共 18 条

[1]

BRENHOLZ P, 1982, AM J HUM GENET, V34, pA119

[2] CONFIRMATION OF A SUSPECTED 16Q DELETION IN A DYSMORPHIC CHILD BY FLOW KARYOTYPE ANALYSIS [J].