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A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.

A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac mal...

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Detaylı Bibliyografya
Yayımlandı:J Med Genet
Asıl Yazarlar: Valerio, D, Lavorgna, F, Scalona, M, Conte, A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 1993
Konular:
Online Erişim:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016504/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8411060/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.8.697
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