Male infant with cat cry syndrome and apparent absence of the Y chromosome |
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| Authors: | M. Tolksdorf J. Kunze H. Rossius H. Chiyo |
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| Affiliation: | (1) Department of Pediatrics, University of Kiel, D-2300 Kiel, Federal Republic of Germany;(2) Department of Genetics, Hyogo College of Medicine, Mukogawa-cho 1-1, Nishinomiga, 663 Hyogo, Japan |
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| Abstract: | We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome.The karyotype is interpreted as 45,X,del(5)(qter p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.Dedicated to Prof. Dr. H.-R.Wiedemann on the occasion of his 65th birthday |
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| Keywords: | Cri-du-chat syndrome Absence of Y chromosome Male phenotype Male external genitalia |
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