Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through...

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Hlavní autoři: Utkus, A., Sorokina, I., Kucinskas, V., Rothlisberger, B., Balmer, D., Brecevic, L., Schinzel, A.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 1999
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762944/
https://ncbi.nlm.nih.gov/pubmed/9950373
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