Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility. Chen H,Young R,Mu X,Nandi K,Miao S,Prouty L,Ursin S,Gonzalez J,Yanamandra K. American journal of medical genetics . 1999...
UPD 可以再依兩條染色體的 來源細 分為單親同二體症(isodisomy或單親異二體症) (heterodisomy) ,如下圖,兩種皆有可能致病。 親代 子代 UPD發生的原因,目前被認為有 幾種可能機制 : 1. Trisomy rescue (三染色體自救) :一個帶有三染色體的受精卵,其中一條染色體自我救復遺 失 2. Monosomy rescue 單染色體...
isochromosome 1 i(1p) i(1q) uniparental isodisomy fluorescence in situ hybridization (FISH) chromosome 1 markers multiple congenital anomalies sterility short stature ptosis myopathy deafness DOI: 10.1002/(SICI)1096-8628(19990129)82:3<215::AID-AJMG4>3.0.CO;2-Z 被...
The types of UPD are defined as 'isodisomy' (two identical copies of one of the parental alleles) or 'heterodisomy' (two distinct alleles derived from the same parent). A further issue relevant to uniparental disomies is mosaicism: certain uniparental disomies, for example, genome-wide ...
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) (Letter) . Albrecht B, Mergenthaler S, Eggermann K, Zerres K, Passarge E, Eggermann T . J Med Genet ( 2001 ) 38 214-215...
Uniparentaldisomy(UPD) refers to the situation in which both chromosomes of a pair or the regions of chromosome in any individual have been inherited from a single parent[1]. There are two types ofuniparental disomy: uniparental isodisomy and uniparental heterodisomy. Uniparental isodisomy refers ...
4.Uniparental disomy (UPD) (单亲二体)is a condition where both homologs of a chromosome pair are inherited from the same parent, either from the mother (maternal, or UPDmat) or from the father (paternal, or UPDpat). UPD can lead to functional nullisomy for imprinted genes(UPD可以导致...
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomyA homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomyDesmocollin-2DesmosomesCardiomyopathyArrhythmogenic right ventricular cardiomyopathyUniparental...
Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively. Uniparental disomy (UPD) is a rare condition in which a diploid offspring carries a chromosomal pair from a single parent. We now report the first two...