Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication.
The 4q deletion syndrome shows varying phenotype, ranging from severe and complex malformations, unconformable with life, to more specific findings, as genitourinary, gastrointestinal and cardiac malformations, cleft palate,microcephaly, hypertelorism and abnormal ears and limbs. Strabismus, nystagmus, ophthalmoplegia, and optic nerve anomalies have been rarely described in literature. We report an original case of simultaneous deletion and duplication of chromosome 4q, confirmed by SNPs-array analysis of DNA, and characterized by a previously unreported association between optic nerve hypoplasia and progressive external ophthalmoplegia.
Department of Surgery, Ophthalmology Unit, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy. parentin@burlo.trieste.it
Fulvio
F
Parentin
Antonella
A
Fabretto
Daniela Gambel
DG
Benussi
Vincenzo
V
Petix
Federico
F
Marchetti
Leda
L
Dalprà
Serena
S
Redaelli
Stefano
S
Pensiero
Vanna
V
Pecile
D002648:Child; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008297:Male; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis / Q000235:genetics*; D009900:Optic Nerve / Q000002:abnormalities*; D020641:Polymorphism, Single Nucleotide