title: A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.
abstract: We report a male infant referred with multiple congenital abnormalities consistent with the Wolf-Hirschhorn syndrome. Cytogenetic analysis showed a chromosome complement of 46,XX with a deletion of 4p15.2----4pter and its replacement by material of unknown origin. The patient was positive for a number of Yp probes including SRY, the testis determining factor, and in situ hybridisation localised the Yp material to the tip of the short arm of one X chromosome. Using pDP230, a probe for the pseudoautosomal region, and M27 beta, which recognises a locus in proximal Xp, the material translocated on to 4p was identified as originating from the short arm of the paternal X chromosome. The most reasonable explanation for this complex rearrangement is two separate exchange events involving both chromatids of Xp during paternal meiosis. An aberrant X-Y interchange gave rise to the sex reversal and an X;4 translocation resulted in additional, apparently active Xp material and a deletion of 4p which produced the Wolf-Hirschhorn phenotype.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital.
authors.forename: K
authors.initials: K
authors.lastname: Coles
authors.forename: M
authors.initials: M
authors.lastname: Mackenzie
authors.forename: J
authors.initials: J
authors.lastname: Crolla
authors.forename: J
authors.initials: J
authors.lastname: Harvey
authors.forename: J
authors.initials: J
authors.lastname: Starr
authors.forename: F
authors.initials: F
authors.lastname: Howard
authors.forename: P
authors.initials: P
authors.lastname: Jacobs
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002478:Cells, Cultured; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome