Brothman AR, Rehberg K, Storto PD, Phillips SE, Mosby RT: Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male. Clin Genet 1992; 42: 47 - 49.Brothman A R,Rehberg K,Storto P D,Phillips S E,Mosby R T.Confirmation of true mosaic trisomy 20 in a ...
孕妇在妊娠25周时再度做羊水穿刺复检,结果培养羊水细胞显示30%异常mosaic trisomy 15,未培养羊水细胞DNA经过QF-PCR检测,排除UPD(15),但证实有父源的镶嵌型三染色体15,而羊水基因芯片aCGH检查则显示有75%异常mosaic trisomy 15,同时未培养羊水细胞经FISH检查显示有45%异常mosaic trisomy 15。超音波检查则是正常。 孕...
We report two patients with mosaic trisomy ring 20. The first patient was a 16 yo referred for possible Cohen syndrome because of obesity, learning disabilities and speech delay. Additionally, he had a history of Tetralogy of Fallot, myopia, small posterior subcapsular cataracts and dysmophic ...
non-mosaic trisomy 20prenatal diagnosisWe report a case of non-mosaic trisomy 20 detected prenatally by amniocentesis during the 16th week of pregnancy. Fetal blood sampling showed a normal karyotype and no fetal, neonatal or infant abnormalities were observed. Amniotic fluid cell karyotyping revealed...
Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings 来自 onAcademic 喜欢 0 阅读量: 4 关键词: chromosome inversion fluorescence in situ hybridization genetic recombination mosaicism trisomy DOI: 10.1111/j.1442-200x.2010.03041.x 年份: 2010 ...
Mosaic trisomy 21 accounts for 2–4% of Down's syndrome cases, which are distinct from complete trisomy in that the former can have less severe intellectual and developmental manifestations [24]. Mosaic Turner's syndrome, also known as mosaic X loss, also manifests in a less severe phenotype...
Mosaic Down syndrome is a rare form of Down syndrome that can cause significant challenges. While those with mosaic Down syndrome have a mix of affected and unaffected cells, it can be impossible to tell how the extra genetic material will affect someone. However, the condition can have signifi...
Biopsied TE cells were subjected to WGA with a Pre-implantation Genetic Screening for Aneuploidy Kit (Berry Genomics Corp., Beijing, China) along with a no-cell reaction serving as the blank control, normal diploids as the negative control, and trisomy 21 as the positive control. A total of...
We found an association between trisomy X and adult height (ß = 0.84 SDs; 95% CI = 0.66, 1.03;P= 5.8 × 10−20). Women with 47,XXX were 5.3 cm taller on average than 46,XX women (Fig.2, Tables1and2, Supplemental TableS3). Women with trisomy X had normal age at menarche,...
PRENATAL MORTALITY OF TRISOMY 21 (DOWN'S SYNDROME) In a series of 724 spontaneous abortuses of known chromosome constitution 24 had an extra chromosome of the G group. 8 of these were identified as trisomy ... MR Creasy,JA Crolla - 《Lancet》 被引量: 63发表: 1974年 Chromosome survey of...