Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck.

Abstract:

: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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Paulger BR,Kraus EW,Pulitzer DR,Moore CM

doi

10.1111/j.1525-1470.1997.tb00422.x

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

26-30

issue

1

eissn

0736-8046

issn

1525-1470

journal_volume

14

pub_type

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