title: An emerging phenotype of proximal 11q deletions.
abstract: Few reports of small interstitial chromosome 11q deletions are reported in the literature and no clear genotype-phenotype correlation has been demonstrated. We describe a five years old boy who was referred to our attention because of the presence of ptosis of the left eyelid, iris coloboma and developmental delay. Clinical examination also revealed the presence of dysmorphic features including: low frontal hairline, flat profile, round face, full cheeks, periorbital fullness, hypertelorism, broad nasal bridge, down-turned corners of the mouth. Cytogenetic analysis, performed by array-CGH (resolution 1 Mb), revealed a deletion of chromosome 11q13.5q14.2. The present case represents a further patient described in the literature with a small interstitial deletion of chromosome 11q. Our patient shares the dysmorphic features and the presence of developmental delay with the previously reported patients with overlapping proximal 11q deletion. Considering these clinical and cytogenetic similarities, we suggest the existence of an emerging syndrome associated to proximal 11q deletions.
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
authors.forename: Rita
authors.initials: R
authors.lastname: Genesio
authors.forename: Mariarosaria
authors.initials: M
authors.lastname: Cozzolino
authors.forename: Ennio
authors.initials: E
authors.lastname: Del Giudice
authors.forename: Angela
authors.initials: A
authors.lastname: Mormile
authors.forename: Floriana
authors.initials: F
authors.lastname: Imperati
authors.forename: Valentina
authors.initials: V
authors.lastname: Ronga
authors.forename: Roberto
authors.initials: R
authors.lastname: Della Casa
authors.forename: Lucio
authors.initials: L
authors.lastname: Nitsch
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome