[Partial trisomy 13 due to t(X;13) translocation. Contribution of in situ hybridization].
A new case of partial trisomy 13 through unbalanced de novo translocation t(X;13) is reported. In situ hybridization has been used to specify breakage points on the X chromosome. This case is cytogenetically comparable with another reported case; the phenotypical aspect of these two patients is however different. This discrepancy is discussed.
D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie 13 partielle par translocation t(X;13). Apport de l'hybridation in situ.