Publication: Multiple congenital anomalies in a child with 47,XY,+der(8;9)(p10;p10): A case report
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Date
2015-01-01
Authors
Authors
Görükmez, O.
Görükmez, Orhan
Sağ, Şebnem Özemri
Yakut, T.
Gülten, Tuna
Journal Title
Journal ISSN
Volume Title
Publisher
Medecine Et Hygiene
Abstract
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.
Description
Keywords
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