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.
Parentin
Fulvio
F
Department of Surgery, Ophthalmology Unit, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy. parentin@burlo.trieste.it
Fabretto
Antonella
A
Benussi
Daniela Gambel
DG
Petix
Vincenzo
V
Marchetti
Federico
F
Dalprà
Leda
L
Redaelli
Serena
S
Pensiero
Stefano
S
Pecile
Vanna
V
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