TY - JOUR
T1 - Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication
AU - Parentin, Fulvio
AU - Fabretto, Antonella
AU - Benussi, Daniela Gambel
AU - Petix, Vincenzo
AU - Marchetti, Federico
AU - Dalpr, Leda
AU - Redaelli, Serena
AU - Pensiero, Stefano
AU - Pecile, Vanna
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
KW - 4q
KW - Deletion
KW - Duplication
KW - Hypoplasia
KW - Ophthalmoplegia
KW - Optic nerve
UR - http://www.scopus.com/inward/record.url?scp=65449115758&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=65449115758&partnerID=8YFLogxK
U2 - 10.1080/13816810802592559
DO - 10.1080/13816810802592559
M3 - Article
C2 - 19373683
AN - SCOPUS:65449115758
VL - 30
SP - 103
EP - 105
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
SN - 0167-6784
IS - 2
ER -