[Case of partial trisomy 4p+ in a child as a result of a balanced translocation in the father].
Patiutko Rs, Kulieva Lm, Egolina Na
Abstract
Patiutko Rs, Kulieva Lm, Egolina Na
Abstract
Clinical and cytogenetic data on the infant with mental retardation, multiple congenital anomalies and trisomy for the short arm of the 4th chromosome (46, XY, der (1) (1;4) (q43; p15) are given. The abnormal chromosome was inherited from the father who had a balanced translocation 46, X; (1, 4) (q43; p15). Clinical features of the patient corresponded to those in the observation of other authors.
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Clinical and cytogenetic data on the infant with mental retardation, multiple congenital anomalies and trisomy for the short arm of the 4th chromosome (46, XY, der (1) (1;4) (q43; p15) are given. The abnormal chromosome was inherited from the father who had a balanced translocation 46, X; (1, 4) (q43; p15). Clinical features of the patient corresponded to those in the observation of other authors.
Key concepts: Chromosomal translocation, Trisomy, Partial Trisomy, Chromosome, Chromosome analysis, Genetics, Karyotype, Biology