Ten girls with idiopathic short stature (ISS) were clinically reviewed and cytogenetic analysis performed by GTG-banding. Two abnormal karyotypes were identified: mos 45,X/46,XX and mos 45,X/46,X, der(Xp)/46,X,r(X). In the latter, FISH analysis and microsatellite investigation, including intragenic SHOX CA repeat, confirmed the origin of the abnormal structural chromosomes and revealed haploinsufficiency for the SHOX gene. In the remaining 8 patients with a normal lymphocyte karyotype FISH analysis using an alpha centromeric X probe (DXZ1) in buccal smear cells (nuc ish) […]

Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL-1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. In this study, two families with X-linked KS and four sporadic male patients with hypogonadotropic hypogonadism and anosmia were cytogenetically investigated with high-resolution techniques and FISH. Chromosomal analysis […]