Trisomy 4p syndrome is a distinct clinical entity which had been observed by Wilson (1) almost a quarter of century ago and was later on delineated by Gonzales (2). This chromosomal anomaly is either due to meiotic segregation from a parental balanced translocation or the result of de novo duplication. In this paper we report a new case of de novo 4p trisomy resulted in an unbalanced translocation in a 8-year old girl with dysmorphic features, delayed development and epilepsy. FISH technique has been fundamental in the characterization of the abnormal chromosome.
Trisomy 4p de novo detected by fluorescence in situ hybridization
2001
Abstract
Trisomy 4p syndrome is a distinct clinical entity which had been observed by Wilson (1) almost a quarter of century ago and was later on delineated by Gonzales (2). This chromosomal anomaly is either due to meiotic segregation from a parental balanced translocation or the result of de novo duplication. In this paper we report a new case of de novo 4p trisomy resulted in an unbalanced translocation in a 8-year old girl with dysmorphic features, delayed development and epilepsy. FISH technique has been fundamental in the characterization of the abnormal chromosome.File in questo prodotto:
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