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) (2pter→2q34::7p21→7pter) (7qter→7p21::2q36→2qter). 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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Lundbech, P.E., Thøgersen, T. Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosme 2. Hum Genet 82, 92–93 (1989). https://doi.org/10.1007/BF00288283
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DOI: https://doi.org/10.1007/BF00288283