An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report
49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for geneti...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Galenos Publishing
2012
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537292/ |