title: Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
abstract: Partial trisomy 16 is rare and most of the reported cases are secondary to chromosome rearrangements resulting in concurrent monosomies or trisomies of a second chromosome. Only a few patients survive the neonatal period and the duplication of the long arm seems to be mainly responsible for the prenatal lethality of the full trisomy 16. The reported patients with a partial 16q trisomy have a wide spectrum of congenital anomalies that include dysmorphic features, central nervous system malformations, failure to thrive, and club feet. The patients with duplications of proximal 16q frequently have short stature, developmental delay, speech delay, learning difficulties, and mild to severe behavioral problems. Here we describe a patient with an inverted de novo tandem duplication of 16q with breakpoints evaluated in detail by molecular-cytogenetic techniques. Main clinical features include postural, motor and speech delay with severe learning difficulties and behavioral problems, obesity, microcephaly, and mild dysmorphic features. In the report we attempt to classify the few reported patients with pure partial duplications of 16q in more narrow and homogeneous groups: proximal, proximal-intermediate, intermediate, and intermediate-distal duplications. Moreover, we emphasize the importance of proper cytogenetic investigation and complete molecular cytogenetic refinement in all cases with a suspected chromosomal anomaly.
authors.affiliation: A.O.R.N., G. Rummo, U.O.C. di Genetica Medica, Benevento, Italy. fortunato.lonardo@ao-rummo.it
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lonardo
authors.forename: Lucia
authors.initials: L
authors.lastname: Perone
authors.forename: Marianna
authors.initials: M
authors.lastname: Maioli
authors.forename: Maria
authors.initials: M
authors.lastname: Ciavarella
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Matteo Della
authors.initials: MD
authors.lastname: Monica
authors.forename: Cinzia
authors.initials: C
authors.lastname: Lombardi
authors.forename: Luisa
authors.initials: L
authors.lastname: Forino
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Cantalupo
authors.forename: Lucia
authors.initials: L
authors.lastname: Masella
authors.forename: Francesca
authors.initials: F
authors.lastname: Scarano
mesh_terms: D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D010641:Phenotype; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics