Majalah Kedokteran Bandung (Dec 2019)
Patau Syndrome with Genotype 47,XY, + 13,t(13:18)
Abstract
Trisomy 13 (Patau syndrome) is cytogenetically classified as a 47,XY,+13 or 47,XX,+13, due to nondisjunction at meiosis I or II, or at mitosis (mosaicism), and partial trisomy due to translocation. Patau syndrome is one of the most common chromosomal anomalies with an estimated incidence of about 1/10,000 births characterized by the presence of cleft lip and/or palate, post axial polydactyly, low set ears, rocker-bottom feet, cryptorchidism, and congenital heart disease. This was a case report of a newborn baby in Dr. Hasan Sadikin General Hospital Bandung in January 2016 with translocation of chromosome 13 segment to chromosome 18 or 47,XY,+13,t(13:18).
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