| Diagnosis of genetic defects by chromosomal analysis. | |
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MedLine Citation:
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PMID: 8920609 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Of 901 karyotypes performed over a period of 4 years, genetic anomalies were detected in 162 cases. Down's syndrome (trisomy 21) was the most common (168.8%) genetic disorder followed by Turner's syndrome, Philadelphia chromosome, Klinefelter's syndrome, Edward's syndrome (trisomy 18) and Patau's syndrome (trisomy 13). All the three trisomies were detected very early in life. Mean age at the time of diagnosis for Turner's syndrome was 13.3 years, allowing a timely hormone replacement therapy to improve secondary sexual characters. Patients with Klinefelter's syndrome were diagnosed late (mean age 23.6 years), which greatly reduced their chances of an effective therapy to improve the clinical and social outcome. |
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Authors:
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F Ghani; S Maniar; Z Khilji; M Azim; M Khurshid |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: JPMA. The Journal of the Pakistan Medical Association Volume: 45 ISSN: 0030-9982 ISO Abbreviation: J Pak Med Assoc Publication Date: 1995 Nov |
Date Detail:
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Created Date: 1996-12-23 Completed Date: 1996-12-23 Revised Date: 2008-02-12 |
Medline Journal Info:
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Nlm Unique ID: 7501162 Medline TA: J Pak Med Assoc Country: PAKISTAN |
Other Details:
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Languages: eng Pagination: 295-6 Citation Subset: IM |
Affiliation:
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Department of Pathology, Aga Khan University Hospital, Karachi. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age Distribution Child Child, Preschool Chromosome Aberrations / diagnosis*, epidemiology Chromosome Disorders Congenital Abnormalities / diagnosis, genetics* Female Humans Incidence Infant Infant, Newborn Karyotyping Male |
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