CONFIRMATION OF PROXIMAL 1Q DUPLICATION USING FLUORESCENCE IN-SITU HYBRIDIZATION

被引：23

作者：

CHEN, H ^{[1
]}

KUSYK, CJ ^{[1
]}

TUCKMULLER, CM ^{[1
]}

MARTINEZ, JE ^{[1
]}

DORAND, RD ^{[1
]}

WERTELECKI, W ^{[1
]}

机构：

[1] NEONATOL ASSOCIATES PA,MONTGOMERY,AL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 50卷 / 01期

关键词：

PROXIMAL 1Q TANDEM DUPLICATION; DUP(1Q); PARTIAL TRISOMY 1Q SYNDROME; CHROMOSOME 1 PAINTING PROBE; FLUORESCENCE IN SITU HYBRIDIZATION (FISH);

D O I：

10.1002/ajmg.1320500106

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a boy with excessively wrinkled skin, mild micro/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low-set ears, retro/micrognathia and cleft soft palate (Pierre-Robin anomaly), patent ductus arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet. The infant had a de novo dir dup(1)(pter-->, q25::q12-->qter). Partial duplications involving proximal Iq have rarely been reported. Furthermore, this is the first case of proximal duplication of chromosome Iq with unequivocal identification using fluorescence in situ hybridization (FISH) with a chromosome 1 painting probe. (C) 1994 Wiley-Liss, Inc.

引用

页码：28 / 31

页数：4

共 11 条

[1] APPARENT FRYNS SYNDROME IN A BOY WITH A TANDEM DUPLICATION OF 1Q24-31.2 [J].