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Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation

A 7-month-old male presented with developmental delay and multiple congenital anomalies. He was found to have partial trisomy for the distal segment of chromosome 15 (q22-qter). Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (...

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Detalhes bibliográficos
Main Authors: Singla, Shilpy, Mandal, Kausik, Sharma, Suvasini, Chhapola, Viswas
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4166849/
https://ncbi.nlm.nih.gov/pubmed/25250082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.139354
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