嵌合型16三体来自三体自救,因此有母源单亲二体的风险。 用绒毛膜采样检查出的16三体通常表现为胎盘局限性嵌合体(CPM),与宫内胎儿生长迟缓相关,但很少有其他畸形,即使16三题是局限于胎盘,但仍存在异常妊娠的潜在风险,如宫内胎儿生长迟缓导致宫内死亡、死产或早产(可能由于胎盘功能失调)。 羊膜穿刺术检查出的16三体...
Original research article © American College of Medical Genetics and Genomics Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes? Teresa N. Sparks, MD1,2, Kao Thao, BA1 and Mary E. Norton, MD1,2 Purpose: To evaluate obstetric and neonatal outcomes ...
mosaic trisomy 16neonatal outcomesobstetric outcomesquality of lifeTo evaluate obstetric and neonatal outcomes as well as long-term neurodevelopmental outcomes and quality of life among prenatally detected cases of mosaic trisomy (MT16) and confined placental mosaicism (CPM) for trisomy 16. We recruited...
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 developmental data on a patient prenatally diagnosed with mosaic trisomy 16. At age six years her intellectual functioning, academic achievement,... RJ Simensen,RS Colby,KJ Corning - 《Genetic Counseling》 被引量: 11发表: 2003年 Qualitative weather radar mosaic in a multisensor rainfall...
嵌合型16三体(Mosaic trisomy 16) 01 16三体是在自发流产中最常见的三体,在所有做临床检查的孕妇中的发生率约为1.5%,占所有流产病例的7.5%。完全性16三体的妊娠仅能持续到最小胚胎发育.16三体来自母体减数分裂时的错误。嵌合型16三体来自三体自救,因此有母源单亲二体的风险。
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...
[70]. Similar to the developmental potential, specific types of aneuploidy in CPM, such as trisomy of chromosome 16, appear to be associated with a higher incidence of adverse pregnancy outcomes [71]. Importantly, studies have highlighted the presence of altered mitochondrial expression and function...
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 ...
We present a case of trisomy 8 mosaic syndrome with very different ophthalmic manifestations, some of which are previously unreported in the literature. The patient who was known to have trisomy 8 mosaic syndrome was referred with concerns about his visual abilities. He had a characteristic facial...