[Unbalanced translocation 8/X in a girl].
作者信息
Ickstadt A, Palitzsch D, Foerster W, Fuhrmann-Rieger A
机构信息
Kinderabteilung des Kreiskrankenhauses Gelnhausen, Akademisches Lehrkrankenhaus der Universität Frankfurt.
出版信息
Monatsschr Kinderheilkd. 1989 Apr;137(4):239-42.
PMID:2733701
Abstract
A girl with mild psychomotoric retardation, dysmorphic stigmata, feeding difficulties and recurrent infections is described, who has been observed from the age of 7 months to 3 2/12 years. Chromosomal analysis revealed an unbalanced X-autosomal translocation between the greater parts of the long arm of an X-chromosome and the long arm of an chromosome 8 resulting in a partial trisomy 8q and partial monosomy Xq.
摘要
相似文献
1
[Unbalanced translocation 8/X in a girl].
Monatsschr Kinderheilkd. 1989 Apr;137(4):239-42.
2
3
4
5
Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.一名患有1;18不平衡易位的女孩出现外生殖器男性化和严重智力发育迟缓。
Eur J Med Genet. 2006 Jan-Feb;49(1):19-27. doi: 10.1016/j.ejmg.2005.01.005. Epub 2005 Feb 8.
6
Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.8p部分单体性和8p部分三体性伴中度智力发育迟缓。
Genet Couns. 1992;3(2):83-9.
7
Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11.色素失禁症性白化病（伊藤色素减退症，MIM 146150）：定位于Xp11的进一步证据
Am J Med Genet. 1993 Jun 15;46(5):529-33. doi: 10.1002/ajmg.1320460514.
8
X-inactivation pattern in three cases of X/autosome translocation.
Am J Med Genet. 1978;1(3):309-17. doi: 10.1002/ajmg.1320010307.
9
Double aneuploidy: partial trisomy 21 and XO/XXX in a family with 12/21 translocation.
Ann Genet. 1978 Sep;21(3):177-80.
10
[Translocation trisomy 4q in 2 siblings as a sequela of paternal balanced reciprocal translocation: t(1;4)(q44;q31)].2名同胞中4号染色体长臂易位三体作为父源性平衡易位的后遗症：t(1;4)(q44;q31)
Monatsschr Kinderheilkd. 1990 Nov;138(11):763-6.
Zotero 插件