Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck.
We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the skin lesions.
Paulger
B R
BR
Division of Dermatology, University of Texas Health Science Center, San Antonio 78284, USA.
Kraus
E W
EW
Pulitzer
D R
DR
Moore
C M
CM
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D003318:Corneal Opacity / Q000235:genetics / Q000473:pathology; D005260:Female; D006257:Head; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008850:Microphthalmos / Q000235:genetics / Q000473:pathology; D009333:Neck; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome