Patau Syndrome with Genotype 47,XY, + 13,t(13:18)

Vanda Elfira, Fiva Aprilia Kadi, Bremmy Laksono, Sjarif Hidajat Effendi

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).

 

Sindrom Patau dengan Genotype 47,XY,+13,t(13:18)

Trisomi 13 (sindrom Patau) secara sitogenetik diklasifikasikan 47,XY,+13 atau 47,XX,+13, disebabkan oleh kegagalan pemisahan pada meiosis I atau II, atau pada mitosis (mosaicism) dan trisomi parsial yang disebabkan oleh translokasi. Sindrom Patau merupakan salah satu anomali kromosom yang paling sering dengan insidensi sekitar 1/10.000 kelahiran, dengan karakteristik fenotipe seperti celah bibir dan atau celah langit-langit, postaxial polydactyly, low set ears, rocker bottom feet, kriptokismus, serta kelainan jantung kongenital. Dilaporkan kasus sindrom Patau pada bayi baru lahir di Rumah Sakit Dr. Hasan Sadikin Bandung pada Januari 2016 yang menunjukkan segmen dari kromosom 13 translokasi ke kromosom 18 atau 47,XY,+13,t(13:18).


Keywords


Patau syndrome, Trisomy 13, translocation

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References


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DOI: https://doi.org/10.15395/mkb.v51n3.1389

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