Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. Am. J. Med. Genet. 2007; 143 :1348–1353.Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, ...
We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2→q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium ...
Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 → qter) and partial monosomy 6q(6q26 → qter) by high-resolution array CGH Kwong Wai Choy,Lin Wai Chan,Mary H. Y. Tang,... 被引量: 0发表: 0年 Partial Trisomy 10q (10q25.1 →qter) and Partial ...
Flat Quad, Campo Belo by Duo next to- CGH住客评语 Rua Otávio Tarquínio de Sousa, 1152 flat 608, Campo Belo, 圣保罗, CEP 04613-003, 巴西 圣保罗度假住宿排名第 #2160 - 共3,192家 人气之选 查看住宿 语言 出行类型 排序 住客评分 显示1条公寓点评 9.2 单项评分 清洁程度 10.0 ...
Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISHPatient 1 was the first child born to a 25 year old mother and a 30 year old father. The boy was born spontaneously in the 42nd week of gestation after an uncomplicated pregnancy. Birth ...
It is proposed that de-novo derivative monocentric Y chromosome with duplicated region Y qter→q11.221::p11.31→qter with partial deletion of Yp PAR1 region most probably can perturb the conjugation of sex chromosomes during first meiotic division of spermatogenic arrested differentiation (development)...
De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). Am J Med Genet A. 2008;146A(15):1986-1993.Jiang YH, et al. De novo and complex imbalanced chromosomal ...
2009 . Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms . Epilepsia 50 : 2501 – 2503 .Auvin, S., Holder-Espinasse, M., Lamblin, M.D., and Andrieux, J. (2009). Array-CGH detection...
Array CGH detected approximately an 1,2 Mb single and a 0,2 Mb double copy gain of the proximal long arm of chromosome 22. The 1,3 Mb intervening region of chromosome 22 from centromere to the breakpoints showed no copy alteration. The karyotype of the patient was defined as 47,XY,+...
Hung CC,Lin CH,Lin SY,et al.Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH).Gene. 2012Hung C C; Lin C H; Lin S Y;.Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (...