Fragile X syndrome.
| dc.contributor.author | Donnenfeld, A E | en_US |
| dc.date.accessioned | 1998-07-25 | en_US |
| dc.date.accessioned | 2009-05-30T14:34:26Z | |
| dc.date.available | 1998-07-25 | en_US |
| dc.date.available | 2009-05-30T14:34:26Z | |
| dc.date.issued | 1998-07-25 | en_US |
| dc.description | 16 references. | en_US |
| dc.description.abstract | Fragile X syndrome is the most common familial form of mental retardation. This X-linked disorder affects one in every 1000 males and one in every 2000 females. The female carrier rate in the general population is estimated to be 1/600. A fragile site at the distal long arm of the X chromosome (Xq 27.3) is the hallmark cytogenetic feature of the syndrome. Clinical features include physical as well as cognitive and neuropsychological deficits. Although fragile X syndrome follows an X-linked pattern of inheritance (which explains the predominance of affected males), females can also be affected. Many inconsistencies exist between the genetic inheritance pattern of fragile X and traditional Mendelian inheritance tenets of most X-linked diseases. Due to recent molecular advances, our understanding of the perplexing genetic issues surrounding fragile X syndrome has grown and diagnostic techniques have become both reliable and readily available. | en_US |
| dc.description.affiliation | Department of Obstetrics and Gynecology, Pennsylvania Hospital, University of Pennsylvania School of Medicine, Philadelphia, USA. donnenfl@jeflin.tju.edu | en_US |
| dc.identifier.citation | Donnenfeld AE. Fragile X syndrome. Indian Journal of Pediatrics. 1998 Jul-Aug; 65(4): 513-8 | en_US |
| dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/82785 | |
| dc.language.iso | eng | en_US |
| dc.source.uri | https://medind.nic.in/icb/icbai.shtml | en_US |
| dc.subject.mesh | Child | en_US |
| dc.subject.mesh | Female | en_US |
| dc.subject.mesh | Fragile X Syndrome --diagnosis | en_US |
| dc.subject.mesh | Genetic Counseling | en_US |
| dc.subject.mesh | Genetic Screening | en_US |
| dc.subject.mesh | Heterozygote Detection | en_US |
| dc.subject.mesh | Humans | en_US |
| dc.subject.mesh | Karyotyping | en_US |
| dc.subject.mesh | Male | en_US |
| dc.subject.mesh | Pregnancy | en_US |
| dc.title | Fragile X syndrome. | en_US |
| dc.type | Journal Article | en_US |
| dc.type | Review | en_US |
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