Patau syndrome - a case report
Patau syndrome is a rare and one of the most severe forms of autosomal trisomies. Having a karyotype of trisomy 13, it is associated with high rate of pregnancy loss and poor infant survival rate. The incidence is 1 in 20,000 live births. The common features associated with Patau syndrome are mental...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2014-01-01
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| Series: | National Journal of Clinical Anatomy |
| Subjects: | |
| Online Access: | http://www.njca.info/article.asp?issn=2277-4025;year=2014;volume=3;issue=2;spage=87;epage=89;aulast=Saikia |
| _version_ | 1819059324172894208 |
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| author | Bishwajeet Saikia Bipul Kumar Das Amitav Sarma |
| author_facet | Bishwajeet Saikia Bipul Kumar Das Amitav Sarma |
| author_sort | Bishwajeet Saikia |
| collection | DOAJ |
| description | Patau syndrome is a rare and one of the most severe forms of autosomal trisomies. Having a karyotype of trisomy 13, it is associated with high rate of pregnancy loss and poor infant survival rate. The incidence is 1 in 20,000 live births. The common features associated with Patau syndrome are mental retardation, congenital heart defects, cleft lip and palate, eye defects, Polydactyly, scalp defects and holoprosencephaly. We report a newborn with most of the clinical features consistent with Patau syndrome. Fluorescence in situ hybridization (FISH) technique was used to determine the karyotype and confirm the diagnosis. |
| first_indexed | 2024-12-21T14:09:17Z |
| format | Article |
| id | doaj.art-4e7723b827b44261a7938ef92f933042 |
| institution | Directory Open Access Journal |
| issn | 2277-4025 2321-2780 |
| language | English |
| last_indexed | 2024-12-21T14:09:17Z |
| publishDate | 2014-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | National Journal of Clinical Anatomy |
| spelling | doaj.art-4e7723b827b44261a7938ef92f9330422022-12-21T19:01:05ZengWolters Kluwer Medknow PublicationsNational Journal of Clinical Anatomy2277-40252321-27802014-01-0132878910.4103/2277-4025.297739Patau syndrome - a case reportBishwajeet SaikiaBipul Kumar DasAmitav SarmaPatau syndrome is a rare and one of the most severe forms of autosomal trisomies. Having a karyotype of trisomy 13, it is associated with high rate of pregnancy loss and poor infant survival rate. The incidence is 1 in 20,000 live births. The common features associated with Patau syndrome are mental retardation, congenital heart defects, cleft lip and palate, eye defects, Polydactyly, scalp defects and holoprosencephaly. We report a newborn with most of the clinical features consistent with Patau syndrome. Fluorescence in situ hybridization (FISH) technique was used to determine the karyotype and confirm the diagnosis.http://www.njca.info/article.asp?issn=2277-4025;year=2014;volume=3;issue=2;spage=87;epage=89;aulast=Saikiatrisomy 13polydactylyfish |
| spellingShingle | Bishwajeet Saikia Bipul Kumar Das Amitav Sarma Patau syndrome - a case report National Journal of Clinical Anatomy trisomy 13 polydactyly fish |
| title | Patau syndrome - a case report |
| title_full | Patau syndrome - a case report |
| title_fullStr | Patau syndrome - a case report |
| title_full_unstemmed | Patau syndrome - a case report |
| title_short | Patau syndrome - a case report |
| title_sort | patau syndrome a case report |
| topic | trisomy 13 polydactyly fish |
| url | http://www.njca.info/article.asp?issn=2277-4025;year=2014;volume=3;issue=2;spage=87;epage=89;aulast=Saikia |
| work_keys_str_mv | AT bishwajeetsaikia patausyndromeacasereport AT bipulkumardas patausyndromeacasereport AT amitavsarma patausyndromeacasereport |