Concurrence of fragile X and Klinefelter syndromes: report of a new case of paternal nondisjunction.
The concurrence of fragile X and Klinefelter syndromes would be expected occasionally. Therefore, the analysis of the literature showed that the concurrence of both conditions was found at least 16 times. Among them, only seven cases were analyzed for the parental origin of the extra chromosome X, suggesting that the maternal nondisjunction was preferentially inherited. We present the third patient with the concurrence of fragile X and Klinefelter syndromes, in which the parental origin of the supernumerary chromosome X was paternal. This finding reinforces that the parent-of-origin predisposition of the concurrence of the fragile X and Klinefelter syndromes is a pure coincidence.
Santos
Cíntia Barros
CB
Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, Rua São Francisco Xavier 524, PHLC, sala 218, Maracanã, 20550-013, Rio de Janeiro, Brazil.
Hjalgrim
Helle
H
Carneiro
Flávia Raquel Gonçalves
FR
Ribeiro
Márcia
M
Boy
Raquel Tavares
RT
Pimentel
Márcia Mattos Gonçalves
MM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D005220:Fathers; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D009630:Nondisjunction, Genetic; D010375:Pedigree