Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.
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.
Lundbech
P E
PE
Department of Pediatrics, Herning Central Hospital, Denmark.
Thøgersen
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D007223:Infant; D008297:Male; D014178:Translocation, Genetic