Partial distal 5p trisomy resulting from paternal translocation (5;15)(p15.1;p13) in a boy with no mental retardation.
We report a boy with partial distal 5p15.1-->pter trisomy and normal development. We compared the clinical findings in our patient with those previously reported of the same 5p duplicated region. Several cases of autosomal duplications and normal development have been described. The present case is another example of a chromosomal anomaly with little, if any, phenotypic effect without mental retardation.
Baialardo
Edgardo M
EM
Cytogenetics Laboratory, Department of Genetics, Hospital do Pediatria J.P. Garrahan, Combate de Los Pozos 1881, CP1245, Buenos Aires, Argentina. baiaed@yahoo.com.ar
Torrado
María del V
Mdel V
Barreiro
Cristina Z
CZ
Gallego
Marta S
MS
D000293:Adolescent; D041923:Adolescent Development; D002884:Chromosomes, Human, Pair 15; D002895:Chromosomes, Human, Pair 5; D005220:Fathers; D006801:Humans; D008607:Intellectual Disability; D007360:Intelligence / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy