PERRAULT'S SYNDROME: A CLINICAL AND GENETIC INVESTIGATION OF THREE SISTERS

PERRAULT'S SYNDROME: A CLINICAL AND GENETIC INVESTIGATION OF THREE SISTERS

Perrault's syndrome (P.S.) is rare. The combination of gonadal dysgenesis and hearing loss was accompanied by 46,XXkaryotype in three sisters with parental consanguineous marriage. Genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence iPj-bodies, w...

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Bibliographic Details
Main Authors: P. Mehdipour, A.R. Karimi, MM. Bastanhagh
Format: Article
Language:English
Published: Tehran University of Medical Sciences 1999-07-01
Series:Acta Medica Iranica
Subjects:
Perrault!@#$%s syndrome
karyotype
fluorescence in situ hybridization (FISH)
gonadal dysgenesis
Online Access:http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/4850.pdf&manuscript_id=4850

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http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/4850.pdf&manuscript_id=4850

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