Double Aneuploidy: 48,XXY,+18 in a Bedouin Boy
نویسندگان
چکیده
منابع مشابه
Double Aneuploidy: Trisomy 18 and XXY in a Boy
The simultaneous occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. Most of the previously reported cases of double trisomy were found in spontaneous abortions. We report on a male newborn presenting with typical clinical features of Edwards syndrome (trisomy 18), resulting from de novo, non-mosaic 18 trisomy with an additional X in the karyotype: 48, XXY, +...
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Double aneuploidy, the existence of two chromosomal abnormalities in the same individual, is a rare condition. Early diagnosis of this condition is important to offer termination of pregnancy in genetic counselling. Cytogenetic analysis with amniocentesis and ultrasound examination is valuable for diagnosis of double aneuploidy. In this report we present a case with the karyotype of 48XXY+21 di...
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A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...
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ژورنال
عنوان ژورنال: Medical Principles and Practice
سال: 1999
ISSN: 1011-7571,1423-0151
DOI: 10.1159/000026099