title: Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].
abstract: We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.
authors.affiliation: Department of Pediatrics, University of Siena, Italy. zannolli@unisi.it
authors.forename: R
authors.initials: R
authors.lastname: Zannolli
authors.forename: R
authors.initials: R
authors.lastname: Mostardini
authors.forename: L
authors.initials: L
authors.lastname: Pucci
authors.forename: L
authors.initials: L
authors.lastname: Sorrentino
authors.forename: M
authors.initials: M
authors.lastname: Biagioli
authors.forename: R
authors.initials: R
authors.lastname: Perotti
authors.forename: M
authors.initials: M
authors.lastname: Guarna
authors.forename: T
authors.initials: T
authors.lastname: Hadjistilianou
authors.forename: G
authors.initials: G
authors.lastname: Zerega
authors.forename: M
authors.initials: M
authors.lastname: Pierluigi
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: A
authors.initials: A
authors.lastname: D'Ambrosio
authors.forename: G
authors.initials: G
authors.lastname: Morgese
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003560:Cysts / Q000473:pathology*; D020732:Cytogenetic Analysis; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D009154:Mutation; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D012868:Skin Abnormalities / Q000473:pathology*; D014178:Translocation, Genetic