An infant with Turner-Down aneuploidy and massive capillary hemangioma of the orbit: a case report with review.
We report on a case of double aneuploidy involving Down and Turner cell lines in a female child with a massive capillary hemangioma of the left orbit and mild clinical features of Down syndrome. Cytogenetic findings with G-banding revealed mosaicism in her peripheral blood, i.e. mos45,X[48]/47,XX,+21[28]/46,XX[12/47,XXX[12]. Mosaicism of such nature is rare and to our knowledge the present case is the first reported of Turner-Down double aneuploidy mosaicism associated with an orbital capillary hemangioma. An annotated bibliography of earlier reported cases with documented karyotyping is also included.
Musarella
M A
MA
Department of Ophthalmology, The Long Island College Hospital, 339 Hicks Street, NY 11201, Brooklyn, USA.
Verma
R S
RS
D000328:Adult; D000782:Aneuploidy; D002871:Chromosome Banding; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D018324:Hemangioma, Capillary / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009915:Orbit / Q000098:blood supply; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*