Patau Syndrome with Genotype 47,XY, + 13,t(13:18)
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/...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Universitas Padjajaran
2019-12-01
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| Series: | Majalah Kedokteran Bandung |
| Subjects: | |
| Online Access: | http://journal.fk.unpad.ac.id/index.php/mkb/article/view/1389 |
| Summary: | 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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| ISSN: | 0126-074X 2338-6223 |