Uncommon Klinefelter's variant (49,XXXXY) with cleft palate.
The karyotype 49,XXXXY is a rare form of Klinefelter's syndrome. Various anomalies can be found in this variant--more than other variants of Klinefelter's syndrome. Cleft palate is rarely seen among these anomalies. A cleft palate deformity can be diagnosed early and easily. This deformity should cause one to suspect an uncommon variant of Klinefelter's syndrome. Here we present a patient with an uncommon variant of Klinefelter's syndrome who was diagnosed with the help of the presence of an incomplete cleft palate deformity.
Velidedeoğlu
H V
HV
Department of Plastic and Reconstructive Surgery, Social Insurance Association Hospital, Ankara, Turkey.
Demir
Z
Z
Bozdoğan
M N
MN
Coşkunfirat
O K
OK
Kurtay
A
A
Türkgüven
Y
Y
D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D008297:Male