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...
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...
The outcome of mosaic trisomy 16 depends on the cell lines affected.Abigail A. ArmstrongStephanie L. GawLawrence D. PlattObstetric Imaging: Fetal Diagnosis and Care (Second Edition)
Endocrine Abnormalities in Mosaic Trisomy 16 Adolescent: A Case Report Wisconsin Medical JournalNaeem, FahadZaheer, Sohaib SajidUzair, KhawajaIbrahim, Mohsina
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta. Clin Genet 2000;58:436-46.Pen˜ aherrera MS, Barrett IJ, Brown CJ, Langlois S, Yong SL, Lewis S, Bruyere H, Howard-Peebles PN, Kalousek DK, Robinson ...
这是一位非高龄的孕妇,她在产前检查接受母血NIPT 检测,结果发现第15号染色体有异常增量,于是她在妊娠19周时接受羊水穿刺检查,结果发现培养羊水细胞染色体有43% 异常镶嵌型三染色体15(mosaic trisomy 15),而未培养羊水芯片发现有75%异常镶嵌型三染色体15(mosaic trisomy 15)。同时未培养羊水细胞DNA用第15号染色体甲基...
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...
[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...
non-mosaic trisomy 16 (2 cases), 46,Xdel(X)(q21)/46,XX (1 case) and several single cells with trisomies or structural anomalies in otherwise normal... HJ Clouston,J Fenwick,AL Webb,... - 《Human Genetics》 被引量: 123发表: 1997年 Predicting the kinetics of peptide-antibody interacti...
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 ...