Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12) |
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| Authors: | J. W. E. OORTHUYS R. M. SLATER H. BARROWCLOUGH M. J. K. DE KLEINE |
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| Affiliation: | Department of Pediatrics, University Hospital, Binnengasthuis;Institute of Human Genetics, University of Amsterdam;Departments of Pathology and Neonatology, University Hospital, Wilhelmina Gasthuis, Amsterdam, The Netherlands |
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| Abstract: | A patient with several congenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype 46 ,X,der(X),t,X;3)(Xqter← p21::3ql2-←3qter). A comparison of the clinical and cytogenetical findings with similar cases in the literature led to the conclusion that a partial trisomy 3q is the most likely cause for the symptoms in this patient. |
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| Keywords: | Congenital malformations partial monosomy Xp partial trisomy 3q translocation (X 3) |
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