DE-NOVO 17Q PARACENTRIC INVERSION MOSAICISM IN A PATIENT WITH BEEMER-LANGER TYPE SHORT RIB-POLYDACTYLY SYNDROME WITH SPECIAL CONSIDERATION TO THE CLASSIFICATION OF SHORT RIB POLYDACTYLY SYNDROMES

被引：10

作者：

CHEN, H

MIRKIN, D

YANG, S

机构：

[1] WRIGHT STATE UNIV,SCH MED,DEPT PATHOL,DAYTON,OH

[2] CHILDRENS MED CTR,DAYTON,OH

[3] WILLIAM BEAUMONT HOSP,DEPT PATHOL,ROYAL OAK,MI

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 02期

关键词：

BEEMER-LANGER TYPE SHORT RIB POLYDACTYLY SYNDROME; OSTEOCHONDRODYSPLASIA; DE NOVO PARACENTRIC INVERSION OF 17Q MOSAICISM; 46; XY/46; XY; INV(17) (Q21-Q23); GENE MAPPING; PRENATAL ULTRASONOGRAPHY DIAGNOSIS;

D O I：

10.1002/ajmg.1320530209

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A de novo 17q paracentric inversion mosaicism is detected in a fetus with type IV short rib (polydactyly) syndrome (Beemer-Langer). The cytogenetic finding in our case suggests a possible location of the gene or cluster of linked genes responsible for SR (P) S type IV to 17q21 or 17q23. Since this chromosome abnormality has not been described in short rib polydactyly syndromes and the existence of type IV SR (P) S has been controversial, the literature of this entity is reviewed with special consideration to the classification of short rib polydactyly syndromes. (C) 1994 Wiley-Liss, Inc.

引用

页码：165 / 171

页数：7

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