DE-NOVO INTERSTITIAL DELETION Q16.2Q21 ON CHROMOSOME-6

被引:55
作者
VILLA, A
URIOSTE, M
BOFARULL, JM
MARTINEZFRIAS, ML
机构
[1] UNIV COMPLUTENSE,FAC MED,DEPT FARMACOL,E-28040 MADRID,SPAIN
[2] UNIV COMPLUTENSE,HOSP SAN CARLOS,FAC MED,E-28040 MADRID,SPAIN
[3] HOSP SANT JOAN,DEPT PEDIAT,REUS,SPAIN
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 03期
关键词
CHROMOSOME DELETION; MULTIPLE CONGENITAL ANOMALIES MENTAL RETARDATION SYNDROME; GENOTYPE PHENOTYPE CORRELATIONS; PRADER-WILLI SYNDROME; CHROMOSOME ANOMALY;
D O I
10.1002/ajmg.1320550326
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A de novo interstitial deletion of 6q16.2q21 was observed in a 23-month-old boy with mental and psychomotor delay, obese appearance, minor craniofacial anomalies, and brain anomalies. We compare clinical manifestations of this patient with those observed in previously reported cases with similar 6q interstitial deletions. It is interesting to note the clinical similarities between some patients with interstitial deletions of 6q16 or q21 bands and patients with Prader Willi syndrome (PWS) and it may help to keep in mind cytogenetic studies of patients with some PWS findings. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:379 / 383
页数:5
相关论文
共 24 条
[1]  
BZDUCH V, 1989, CLIN GENET, V35, P230
[2]  
CHERY M, 1989, ANN GENET-PARIS, V32, P82
[3]  
COTE GB, 1981, ANN GENET-PARIS, V24, P170
[4]  
FRYNS JP, 1991, ANN GENET-PARIS, V34, P127
[5]  
GLOVER G, 1988, CLIN GENET, V33, P308
[6]   INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-6 ASSOCIATED WITH ABSENT PULMONARY VALVE [J].
HORIGOME, H ;
TAKANO, T ;
HIRANO, T ;
KAJIMA, T ;
OHTANI, S .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (04) :608-611
[7]   INFANTILE HEMANGIOENDOTHELIOMA OF THE LIVER IN PATIENT WITH INTERSTITIAL DELETION OF CHROMOSOME-6Q - REPORT OF AN AUTOPSY CASE [J].
ITO, H ;
YAMASAKI, T ;
OKAMOTO, O ;
TAHARA, E .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (03) :325-329
[8]   EXCLUSION OF HLA LOCUS FROM A LARGE PORTION OF LONG ARM OF CHROMOSOME-6 [J].
KUEPPERS, F ;
DEWALD, G ;
GORDON, H ;
PINEDA, A .
HUMAN HEREDITY, 1977, 27 (04) :242-246
[9]  
LONARDO F, 1988, ANN GENET-PARIS, V31, P57
[10]   A CHILD WITH PARTIAL MONOSOMY 6Q SECONDARY TO A MATERNAL DIRECT INSERTIONAL EVENT [J].
MATKINS, SV ;
MEYER, JE ;
BERRY, AC .
JOURNAL OF MEDICAL GENETICS, 1987, 24 (04) :227-229