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Trisomy 9 Mosaicism with Multiple Congenital Anomalies

A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arterio...

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Vydáno v:J Med Genet
Hlavní autoři: Haslam, Robert H. A., Broske, Stuart P., Moore, Charleen M., Thomas, George H., Neill, Catherine A.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 1973
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013013/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4714587/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.10.2.180
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