Zobrazeno 1 - 3
of 3
pro vyhledávání: '"L D, McCurdy"'
Publikováno v:
American journal of medical genetics. 71(3)
A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b68e942b8e6113ef8e2abadf0b529fa6
https://pubmed.ncbi.nlm.nih.gov/9268103
https://pubmed.ncbi.nlm.nih.gov/9268103
Publikováno v:
American journal of medical genetics. 70(1)
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dff5a48db8c084a9d9bb7a8afc1d2e27
https://pubmed.ncbi.nlm.nih.gov/9129745
https://pubmed.ncbi.nlm.nih.gov/9129745
Publikováno v:
Annales de genetique. 40(2)
Mosaic trisomy 14 in liveborns is rare and may be accompanied by uniparental disomy in the euploid cell line. We report the case of a 6 month old male with growth failure, microcephaly, macroglossia, developmental delay, hypotonia, congenital heart d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c91246b131bc73079976282cb3eb7660
https://pubmed.ncbi.nlm.nih.gov/9259957
https://pubmed.ncbi.nlm.nih.gov/9259957