Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly

被引：18

作者：

Chen, CP

Lee, CC

Chen, LF

Chuang, CY

Jan, SW

Chen, BF

机构：

[1] MACKAY MEM HOSP,DEPT MED RES,TAIPEI,TAIWAN

[2] MACKAY MEM HOSP,DEPT PATHOL,TAIPEI,TAIWAN

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 09期

关键词：

cebocephaly; alobar holoprosencephaly; human chromosome 14; chromosome deletion;

D O I：

10.1136/jmg.34.9.777

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.

引用

页码：777 / 778

页数：2

共 16 条

[1] Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly [J].

Belloni, E ;

Muenke, M ;

Roessler, E ;

Traverso, G ;

SiegelBartelt, J ;

Frumkin, A ;

Mitchell, HF ;

DonisKeller, H ;

Helms, C ;

Hing, AV ;

Heng, HHQ ;

Koop, B ;

Martindale, D ;

Rommens, JM ;

Tsui, LC ;

Scherer, SW .

NATURE GENETICS, 1996, 14 (03) :353-356

[2]

Bruyere H, 1996, PRENATAL DIAG, V16, P1059, DOI 10.1002/(SICI)1097-0223(199611)16:11<1059::AID-PD993>3.0.CO

[3]

2-Z

[4]

Croen LA, 1996, AM J MED GENET, V64, P465, DOI 10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO

[5]

2-O

[6] REPORT OF THE COMMITTEE ON CLINICAL DISORDERS, CHROMOSOME-ABERRATIONS AND UNIPARENTAL DISOMY [J].

FREZAL, J ;

SCHINZEL, A .

CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4) :986-1052

[7]

GRAMMATICO P, 1994, ANN GENET-PARIS, V37, P30

[8] HOLOPROSENCEPHALY, EAR ABNORMALITIES, CONGENITAL HEART DEFECT, AND MICROPHALLUS IN A PATIENT WITH 11Q- MOSAICISM [J].

HELMUTH, RA ;

WEAVER, DD ;

WILLS, ER .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02) :178-181

[9]

KODOMA M, 1990, NO TO HATTATSU, V22, P61

[10]

LEVIN SW, 1991, AM J HUM GENET, V49, P269

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