Cytogenetic abnormalities and clinical presentation in down syndrome patients
نویسندگان
چکیده
منابع مشابه
DOWN\'S SYNDROME: CYTOGENETIC STUDIES IN 150 CASES IN TEHRAN
Cytogenetic studies were performed on 150 cases of Down's syndrome (DS) in Iran. The standard trisomy 21 was found in 132 (88 % ) and translocation-trisomy 21 (+21) in 18 (12%) patients, i.e., t(21,21) in 1(0.63%) and mosaicism in 17(11.33%) cases. The comparison of the frequencies for mosaicism between different populations such as Denmark, Hungary, Egypt, Iraq, India, Australia and Iran ...
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Down’s syndrome or trisomy 21 is man’s most frequent genetic disorder. It affects one out of 600-700 live births. It is characterized by the presence of an additional chromosome at the 21 pair which elicits generalized decrease of growth as well as intellectual disability. In scientifi c literature there are many reports of cranio-facial and oral manifestations of this disorder. Chief oral cond...
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Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome have been detected.1191 of cases (92.76%) born free trisomy 21:61 cases (4.75%) revealed translocation and 32 cases (2.4%) showed mosaic pattern.among the pateints,59 had robertsonian translocation,2 had translocation between chromosome ...
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Título: Avances Citogenéticos y Neurobiológicos en el Síndrome de Down. Resumen: El síndrome de Down es una alteración autosómica que, tradicionalmente, ha sido estudiada de forma independiente, desde ámbitos como la medicina, la biología o la psicología. En este artículo pretendemos ir más allá e incorporar una perspectiva multidisciplinar que contemple, por una parte, los principales hallazgo...
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The spectrum of medical conditions and the cytogenetic profile in all children with Down syndrome attending a referral clinic in Amman, Jordan over a 1-year period was described. A total of 33 patients (18 females, 15 males) attended, aged from day 1 to 14 years. Median maternal age at the time of delivery was 31.5 years. Eleven (33%) children had a mild to moderate conductive hearing loss, 5 (...
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ژورنال
عنوان ژورنال: IP Journal of Diagnostic Pathology and Oncology
سال: 2020
ISSN: 2581-3714,2581-3706
DOI: 10.18231/j.jdpo.2020.007