Partial trisomy of chromosome 21 without the Down syndrome phenotype.
نویسندگان
چکیده
Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan *Correspondence to: Pao-Lin Kuo. E-mail: [email protected]; Tsung-Cheng Kuo. E-mail: [email protected] These authors made an equal contribution to this work.
منابع مشابه
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D own’s syndrome is caused by trisomy of chromosome 21. This invariably results in cognitive impairment, hypotonia, and characteristic phenotypic features such as flat facies, upslanting palpebral fissures, and inner epicanthal folds, and variations in digits and the ridge formation on hands and feet. Furthermore, trisomy 21 is a risk factor for congenital heart disease, Hirschsprung’s disease,...
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D own’s syndrome is caused by trisomy of chromosome 21. This invariably results in cognitive impairment, hypotonia, and characteristic phenotypic features such as flat facies, upslanting palpebral fissures, and inner epicanthal folds, and variations in digits and the ridge formation on hands and feet. Furthermore, trisomy 21 is a risk factor for congenital heart disease, Hirschsprung’s disease,...
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Pure partial trisomy of chromosome 21 is a rare event. The patients with this aberration are very important for setting up precise karyotype-phenotype correlations particularly in Down syndrome phenotype. We present here a patient with Down syndrome with a de novo derivative chromosome 21. Karyotype of the patient was designated as 46,XY,der(21)(p13)dup(21)(q11.2q21.3)dup(21)(q22.2q22.3) with r...
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ورودعنوان ژورنال:
- Prenatal diagnosis
دوره 36 5 شماره
صفحات -
تاریخ انتشار 2016