Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male

• Published in: Journal of medical genetics 1999-09, Vol.36 (9), p.711-713
• Main Authors: Stuppia, L, Calabrese, G, Borrelli, P, Gatta, V, Morizio, E, Mingarelli, R, Di Gilio, M C, Crinò, A, Giannotti, A, Rappold, G A, Palka, G
• Format: Article
• Language: English
• Subjects: Adolescent; Biological and medical sciences; Bone and Bones - abnormalities; Bone and Bones - diagnostic imaging; Chromosomes; Diseases of the osteoarticular system; DNA Mutational Analysis; Gene Deletion; Genes; Homeodomain Proteins - genetics; Humans; In Situ Hybridization, Fluorescence; Leri-Weill syndrome; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Mutation; Noonan Syndrome - genetics; Osteochondrodysplasias - diagnostic imaging; Osteochondrodysplasias - genetics; PABX; Polymerase Chain Reaction; Radiography; Short Report; Short Stature Homeobox Protein; SHOX gene; X Chromosome; X karyotype
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.36.9.711

A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis withSHOX and SRY gene probes was carried out. One copy of bothSHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, theSRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal X chromosome.