title: Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.
abstract: We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cytogenetic analysis has shown the X chromosome breakpoint in both females to be at Xp22.3. We suggest that this syndrome is the result of a deletion or disruption of DNA sequences in the region of Xp22.3.
authors.affiliation: Department of Genetic Counselling, Leeds General Infirmary.
authors.forename: L I
authors.initials: LI
authors.lastname: al-Gazali
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
authors.forename: A
authors.initials: A
authors.lastname: Caine
authors.forename: A
authors.initials: A
authors.lastname: Antoniou
authors.forename: A
authors.initials: A
authors.lastname: McCartney
authors.forename: M
authors.initials: M
authors.lastname: Fitchett
authors.forename: N R
authors.initials: NR
authors.lastname: Dennis
mesh_terms: D003318:Corneal Opacity / Q000151:congenital / Q000235:genetics; D004890:Erythema; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000235:genetics*; D012730:Sex Chromosomes; D012868:Skin Abnormalities; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome