INTERSTITIAL TANDEM DIRECT DUPLICATION OF THE LONG ARM OF CHROMOSOME 4(Q23-Q27) AND POSSIBLE ASSIGNMENT OF THE STRUCTURAL GENE ENCODING HUMAN ASPARTYLGLUCOSAMINIDASE TO THIS SEGMENT

被引:23
作者
HALAL, F
VEKEMANS, M
CHITAYAT, D
机构
[1] UNIV MONTREAL,HOP ST JUSTINE,MONTREAL H3T 1C5,QUEBEC,CANADA
[2] UNIV MONTREAL,HOP NOTRE DAME,DEPT PEDIAT,MONTREAL H3C 3J7,QUEBEC,CANADA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 04期
关键词
DIRECT DUPLICATION 4Q; TANDEM DUPLICATION 4Q; INTERSTITIAL DUPLICATION 4Q; GROWTH RETARDATION; PSYCHOMOTOR RETARDATION; TETRALOGY OF FALLOT; MINOR FACIAL ANOMALIES; ASPARTYLGLUCOSAMINIDASE; GENE DOSAGE;
D O I
10.1002/ajmg.1320390412
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23 --> q27. Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple. Her phenotype is compared with that of previously reported cases of duplication 4q. An increased activity of the enzyme aspartylglucosaminidase (AGA) in cultured fibroblasts was demonstrated. This suggests possible assignment of the AGA gene to the chromosomal segment 4q23 --> 4q27.
引用
收藏
页码:418 / 421
页数:4
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