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pro vyhledávání: '"B D, Kuchinka"'
Autor:
B D, Kuchinka, I J, Barrett, G, Moya, J M, Sánchez, S, Langlois, S L, Yong, D K, Kalousek, W P, Robinson
Publikováno v:
Prenatal diagnosis. 21(1)
Two cases of trisomy 4 mosaicism are reported including one with molecularly confirmed uniparental disomy (UPD) of chromosome 4. Cytogenetic analysis of a chorionic villus sample (CVS) in Case 1 showed complete trisomy 4 in trophoblast and diploidy i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ac58da47a90686d721fb6a6b9ea7e357
https://pubmed.ncbi.nlm.nih.gov/11180238
https://pubmed.ncbi.nlm.nih.gov/11180238
Publikováno v:
American journal of medical genetics. 94(1)
Recurrence of trisomy 21 was observed in a family in which both parents had a normal chromosome complement. Mosaic trisomy 21 was found in a blood karyotype of the first child, a second pregnancy ended in spontaneous abortion, and a full trisomy 21 w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7ad504c3050c3521672b8c6b440fb36
https://pubmed.ncbi.nlm.nih.gov/10982480
https://pubmed.ncbi.nlm.nih.gov/10982480
Publikováno v:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 8(2)
Fluorescence in situ hybridization (FISH) provides a rapid and accurate method for the detection of chromosomal aneuploidy. We have developed a technique for the use of FISH on single cell suspensions produced from either formalin-fixed or paraffin-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9685662be15da3f1ab16b074626badbb
https://pubmed.ncbi.nlm.nih.gov/7777481
https://pubmed.ncbi.nlm.nih.gov/7777481