TRISOMY-22 AND FACIOAURICULOVERTEBRAL (GOLDENHAR) SEQUENCE

被引：53

作者：

KOBRYNSKI, L

CHITAYAT, D

ZAHED, L

MCGREGOR, D

ROCHON, L

BROWNSTEIN, S

VEKEMANS, M

ALBERT, DL

机构：

[1] ROYAL VICTORIA HOSP,DEPT OPHTHALMOL & PATHOL,MONTREAL H3A 1A1,QUEBEC,CANADA

[2] SIR MORTIMER B DAVIS JEWISH HOSP,DEPT PATHOL,MONTREAL H3T 1E2,QUEBEC,CANADA

[3] MONTREAL CHILDRENS HOSP,DEPT PEDIAT,DIV MED GENET,MONTREAL H3H 1P3,QUEBEC,CANADA

[4] MCGILL UNIV,MONTREAL H3A 2T5,QUEBEC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 01期

关键词：

HEMIFACIAL MICROSOMIA; CHROMOSOME ABNORMALITY; INSITU HYBRIDIZATION; EPIBULBAR CHORISTOMA;

D O I：

10.1002/ajmg.1320460111

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly, and limbal and epibulbar complex choristoma. Trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Goldenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.

引用

页码：68 / &

共 44 条

[1]

ALEKSIC S, 1984, CHILD BRAIN, V11, P285

[2]

ANTLE MC, 1990, J PEDIATR OPHTHALMOL, V27, P310

[3]

Beauchamp G R, 1984, J Pediatr Ophthalmol Strabismus, V21, P209

[4] CONFIRMATION OF TRISOMY-22 BY TRYPSIN-GIEMSA STAINING [J].