title: De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.
abstract: We report on a boy with speech delay, mental retardation, motor clumsiness, hyperactivity, dysmorphic facial features, brachytelephalangy and short stature. Electrocardiogram, echocardiography, renal ultrasound, electroencephalogram, fundoscopic exam and auditory brainstem responses were all normal. Brain magnetic resonance imaging showed a left temporal arachnoid cyst and a small pineal gland cyst. High resolution karyotype and FISH analysis detected a de novo duplication of the short arm of chromosome 20. A molecular characterization of the chromosomal anomaly was performed by array-CGH, confirming a 17.98 Mb duplication of the short arm of chromosome 20 associated with a small duplication on chromosome 3p, that was shown to be maternally inherited. This is one of the few cases of de novo trisomy 20p with extensive workup, characterization at molecular level and close follow-up from the neonatal period to age 30 months. We also compared the phenotype of our patient with that previously reported in literature, therefore contributing to better define the trisomy 20p syndrome and helping pediatricians and geneticists to better counsel families about the developmental prognosis of these children.
authors.affiliation: Child Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy. dr.luca.bartolini@gmail.com
authors.forename: Luca
authors.initials: L
authors.lastname: Bartolini
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lenzini
authors.forename: Chiara
authors.initials: C
authors.lastname: Rigon
authors.forename: Elisa
authors.initials: E
authors.lastname: Cainelli
authors.forename: Cristina
authors.initials: C
authors.lastname: Agrati
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.forename: Marta
authors.initials: M
authors.lastname: Donà
authors.forename: Eva
authors.initials: E
authors.lastname: Trevisson
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000235:genetics*; D001034:Apgar Score; D016080:Arachnoid Cysts / Q000000981:diagnostic imaging; D002675:Child, Preschool; D020223:Chromosome Painting; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011859:Radiography; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics