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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Detalles Bibliográficos
Autores principales: Singla, Shilpy, Mandal, Kausik, Sharma, Suvasini, Chhapola, Viswas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166849/
https://www.ncbi.nlm.nih.gov/pubmed/25250082
http://dx.doi.org/10.4103/1817-1745.139354
Descripción
Sumario: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 (6;15)(q26;q22).

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