Presumptive Mosaic Partial Trisomy Associated with Congenital Anomalies and Mental Deficiency

The case of a mentally retarded patient with congenital anomalies not typical of any known chromosome unbalance is reported. In his karyotype, 40·6% of the cells were normal, while 59·4% had a missing G and an almost metacentric marker longer than an F chromosome. The abnormal cell line was interpre...

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Bibliographic Details
Published in:J Med Genet
Main Authors: Vianna-Morgante, Angela M., Domingues, Wanderley M., Ortega, Claudio C., Kasahara, Sanae
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 1974
Subjects:
Case Reports
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013097/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4134623/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.11.1.104
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