title: Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.
abstract: 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.
authors.affiliation: Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands.
authors.forename: D
authors.initials: D
authors.lastname: Stemkens
authors.forename: T
authors.initials: T
authors.lastname: Roza
authors.forename: L
authors.initials: L
authors.lastname: Verrij
authors.forename: H
authors.initials: H
authors.lastname: Swaab
authors.forename: M K
authors.initials: MK
authors.lastname: van Werkhoven
authors.forename: B Z
authors.initials: BZ
authors.lastname: Alizadeh
authors.forename: R J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: J C
authors.initials: JC
authors.lastname: Giltay
mesh_terms: 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
chemical_list: D011944:Receptors, Androgen; D004247:DNA