Cleft palate in a rare case of Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism.
Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism has been rarely reported, and its phenotypic features, compared with those of the classic type, have not been well delineated. We describe a newborn baby with phenotypic abnormalities, including cleft palate and low-set ears. The cytogenetic analysis of peripheral blood lymphocytes showed a karyotype of 48,XXXY[36]/46,XY[4]. To the best of our knowledge, this is the first case in which 48,XXXY/46,XY mosaicism was related to the congenital anomaly of cleft palate. This case underscores that cytogenetic analysis should be a mandatory workup for the patient with cleft palate and that cleft palate may be a rare clinical presentation of the variant Klinefelter syndrome.
Hur
Mina
M
Department of Laboratory Medicine, Konkuk University School of Medicine, Seoul, Korea.
Cho
Hyoun Chan
HC
Lee
Kyu Man
KM
Park
Hyokhan
H
Lee
So Yeon
SY
Kim
Kwang Nam
KN
Kim
Sun Hee
SH
Ki
Chang Suk
CS
D002972:Cleft Palate / Q000473:pathology*; D004431:Ear, External / Q000002:abnormalities; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D009030:Mosaicism; D010641:Phenotype