Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.
Studies on Turner syndrome suggested the presence of X-chromosomal-imprinted genes involved in social and verbal cognition. Imprinted genes on autosomes were shown to affect growth. Could imprinting of such genes on the X chromosome also influence psychomotor development and growth in men with Klinefelter syndrome (KS), who have a supernumerary X? We recorded anthropometric and psychomotor development parameters for 61 males with KS (age range 2-56 years). In 54 cases, we were able to assess intelligence quotient (IQ) and found that impaired speech - and motor developmental problems were reported significantly more often in the paternal X - than in the maternal X group (P = 0.02). We found some significant (P < 0.05) increased body size parameters in the paternal X group, which concurs with data reporting a growth promoting influence of paternally derived genes. Our results suggest X-chromosomal imprinting occurs in males with KS.
Stemkens
D
D
Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands.
Roza
T
T
Verrij
L
L
Swaab
H
H
van Werkhoven
M K
MK
Alizadeh
B Z
BZ
Sinke
R J
RJ
Giltay
J C
JC
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007360:Intelligence / Q000235:genetics; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics; D018911:Trinucleotide Repeats
D011944:Receptors, Androgen; D004247:DNA