Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

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Malla, Tahir M.; Pandith, Arshad A.; Dar, Fayaz A.; Zargar, Mahrukh H.;
  • Publisher: SpringerOpen
  • Journal: Egyptian Journal of Medical Human Genetics,volume 17,issue 1,pages137-140 (issn: 1110-8630)
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  • Related identifiers: doi: 10.1016/j.ejmhg.2015.06.006
  • Subject: Genetics(clinical) | QH426-470 | Genetics | R5-920 | Medicine (General) | Premature centromeric separation | Premature chromatid separation | Cytogenetics | Roberts syndrome

There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister) chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key fac... View more
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