Mosaic trisomy 18 male with normal intelligence who fathered a normal baby girl. Am J Med Genet. 1998 Apr 1; 76 (4):365–366. [ PubMed ]Lim AS,Su LC.Mosaic trisomy 18 male with normal intelligence who fathered a normal baby girl. American Journal of Medical Genetics . 1998...
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...
Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY, +3/48,XXY, +18 karyotype. (1997) Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY + 3/...
False-negative trisomy 18 has been reported after chorionic villus sampling, but not after amniocentesis. We describe a double aneuploidy in cultured amniocytes that was initially ... 查看全部>> 关键词: chromosome mosaicism trisomy 3 trisomy 18, Klinefelter double aneuploidy amniocentesis DOI: 10.10...
A complex chromosomal mosaic was observed in cultured lymphocytes and skin fibroblasts of a male infant with multiple congenital malformation. The clinical features of the patient overlapped with those of 18p-, 13 trisomy and 18 trisomy syndromes. The ka
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 ...
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...
Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of th...
False-negative trisomy 18 has been reported after chorionic villus sampling, but not after amniocentesis. We describe a double aneuploidy in cultured amniocytes that was initially misinterpreted as a pseudomosaicism. A patient was referred at 31 weeks of gestation because of fetal anomalies at ultras...
Penchaszadeh et al [3] reported prenatal diagnosis of mosaic trisomy 5 (18/45 cells = 40%) by amniocentesis in a fetus. The blood karyotype was normal. The neonate postnatally manifested low birth weight, systolic murmur, and preauricular pit. Casamassima et al [4] reported prenatal ...