Yayın: Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): A case report
Tarih
Kurum Yazarları
Yazarlar
Görükmez, O.
Görükmez, Orhan
Sağ, Şebnem Özemri
Yakut, T.
Gülten, Tuna
Danışman
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Yayıncı:
Medecine Et Hygiene
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Özet
Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): a case report: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome. We report a complex sSMC derived from chromosomes 9 and 8, characterized as der(8;9)(p10;p10) resulting from unbalanced transition of maternal balanced translocation. Besides dysmorphic face and mental-motor retardation, the patient had Dandy-Walker malformation (DWM) in cranial MR also. As far as we are concerned, this is the first complex sSMC case comprising short arms of 8th and 9th chromosomes.
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Konusu
Supernumerary marker chromosomes, Partial trisomy 8p, Duplication, Translocation, Agenesis, 9p, Ssmc trisomy 8p, Trisomy 9p, Science & technology, Life sciences & biomedicine, Biotechnology & applied microbiology, Genetics & heredity, Medical ethics, Medicine, research & experimental, Biotechnology & applied microbiology, Genetics & heredity, Medical ethics, Research & experimental medicine