Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.
نویسندگان
چکیده
منابع مشابه
Multiplex PCR Screening of Y Chromosome Microdeletions in Azoospermic Patients
Objective To develop a multiplex PCR protocol for routine screening of microdeletions on the Y chromosome Methods Five multiplex sets were established and Y chromosome microdeletions screening were carried out in 26 azoospermic men who undertook ICSI and 30 azoospermic men who undertook testicular biopsy. Results In 56 azoospermic men, 5 patients were found with AZFc/DAZ microdeletions, 2 patie...
متن کاملY chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.
AIM To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS). METHODS Blood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fl...
متن کاملmodern surgical techniques in treatment of patients with cleft lip & cleft palate
چکیده ندارد.
15 صفحه اولScreening for Y chromosome microdeletions in 226 Slovenian subfertile men.
BACKGROUND The objective of this study was to estimate the frequency of Y chromosome microdeletions in the Slovenian population of infertile men and to analyse the consequences of mutation in respect to clinical severity and prognosis. METHODS In a controlled clinical study at the university-based medical genetics service and infertility clinic, 226 infertile men undergoing ICSI were tested. ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.4.233