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Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the sho...

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Detaylı Bibliyografya
Yayımlandı:J Med Genet
Asıl Yazarlar: Vianna-Morgante, A M, Nozaki, M J, Ortega, C C, Coates, V, Yamamura, Y
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 1976
Konular:
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013442/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1003448/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.5.366
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