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The ring 14 syndrome.
Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14.
Eur J Med Genet. 2012.
PMID: 22564756
Review.
The ring 14 syndrome is a rare condition, whose precise clinical and genetic characterization is still limited. ...Behavior disorders and susceptibility to infections can be assigned to the 14q32 region, haploinsufficiency being the most likely underlying mechanism. …
The ring 14 syndrome is a rare condition, whose precise clinical and genetic characterization is still limited. ...Behavior disorders …
Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.
Sun ML, Zhang HG, Liu XY, Yue FG, Jiang YT, Li SB, Liu RZ.
Sun ML, et al.
Taiwan J Obstet Gynecol. 2020 Nov;59(6):963-967. doi: 10.1016/j.tjog.2020.09.030.
Taiwan J Obstet Gynecol. 2020.
PMID: 33218423
Free article.
Review.
CASE REPORT: A 29-year-old woman underwent amniocentesis at 19 weeks of gestation due to the high risk of Down syndrome in maternal serum screening. No abnormalities were observed in prenatal ultrasound findings. ...The chromosomal microarray analysis (CMA) results of the …
CASE REPORT: A 29-year-old woman underwent amniocentesis at 19 weeks of gestation due to the high risk of Down syndrome in maternal s …
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