Twitter Google Share on Facebook aneuploidy (redirected fromPartial trisomy) Thesaurus Medical Encyclopedia Related to Partial trisomy:trisomic an·eu·ploid (ăn′yə-ploid′) adj. Having a chromosome number that is not a multiple of the haploid number for the species. ...
Here, we present our experience of prenatal diagnosis and molecular cytogenetic characterization of mosaic r(13) associated with 13q deletion. Show abstract Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings 2013, Gene Citation Excerpt...
Mosaic trisomy has been reported in a few patients; however, their broad spectrum of clinical find- ings does not allow a characteristic pattern of congenital anomalies to be defined [3]. UPD 16 (always maternal) has so far been detected secondary to the discovery of pla- cental trisomy or...
Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation. Am J Med Genet. 1997 Jan 10; 68 (1):50–53.Morrison PJ, Smith NM, Martin KE, Young ID. 1997. Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ ...
Mosaic trisomy 21/monosomy 21 in a living female infant. Cytogenet Genome Res. 2009;125(1):26–32. 12. Chen YC, Wu WJ, Chang SP, Ma GC, Chen M. Prenatal diagnosis of partial monosomy 21q (21q22.1– > qter) associated with intrauterine growth restriction and corpus callosum ...
Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual disability, and distinctive craniofacial abnormalities. Congenital hea...
Additionally, a case of low-level mosaic trisomy 21 in an individual with fragile × syndrome was reported [17]. Thus, up to now, no similar cases involving chromosome 7 and 21 were described. The majority of cases reported were de novo unbalanced translocations [8, 10, 11, 14, 15], ...
1984: Familial partial trisomy of different segments of chromosome 6p and choanal atresia in 2 female infants American Journal of Human Genetics 36(4 Suppl): 106S Riccardi, V.M.; Crandall, B.F. 1978: Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments...
The triplication of human chromosome 21,or subsets of genes mapped to the long arm of this chromosome, is known as Trisomy 21 or Down syndrome In contrast,haploinsufficiency of genes on human chromosome 21 results in Monosomy 21 Complete Monosomy 21 typically results in prenatal death [1,2], ...
Gerou, SpyridonEl-Shanti, HatemKambouris, MariosClin Case RepClinical Case ReportsDina F. Ahram,Danae Stambouli,Aleksandra Syrogianni,etc.Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder[J].2016,(12)....