Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosme 2 |
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Authors: | P. E. Lundbech T. Thøgersen |
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Affiliation: | (1) Department of Pediatrics, Herning Central Hospital, DK-7400 Herning, Denmark;(2) Cytogenetic Laboratory, Psychiatric Hospital, DK-8240 Risskov, Denmark;(3) Skanderborgvej 1832, tv., DK-8260 Viby J, Denmark |
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Abstract: | Summary Clinical and cytogenetical findings are described in an infant with a de novo deletion of the long arm of chromosome 2. The boy's karyotype is 46,XY, rec(2)delq,t(2;7) (2pter2q34::7p217pter) (7qter7p21::2q362qter). He showed developmental retardation, low-set ears, micrognathia, short neck, abundant skin of the neck, tetralogy of Fallot, bipartite labialike scrotum, clitorislike penis, cryptorchism, and deformities of the hands and feet. |
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