title: Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
abstract: We report on a de novo interstitial deletion of chromosome 21q in a patient presenting with characteristic facial features, intellectual disability, and epilepsy. The deletion extent was about 4.9 Mb from position 37713441 bp (21q22.13) to position 42665162 bp (21q22.3) (NCBI36/hg18 map). Patients with partial monosomy 21 are quite rare; this anomaly has been associated with a wide spectrum of clinical signs, ranging from very mild to quite severe phenotypes. This variability results from variability in the deleted regions, thus accurate molecular definition of the chromosomal breakpoints is necessary to make better genotype-phenotype correlations. We compared our patient's phenotype with the few other patients reported in the literature and found to have similar deletion when analyzed by array CGH. The minimal overlapping region contains only two genes, DYRK1A and KCNJ6, which may play a major role in these patients' phenotype.
authors.affiliation: Cytogenetics and Molecular Genetic Unit, A.O.U. Pisana, Ospedale S. Chiara, via Roma 57, Pisa, Italy. a.valetto@ao-pisa.toscana.it
authors.forename: Angelo
authors.initials: A
authors.lastname: Valetto
authors.forename: Alessandro
authors.initials: A
authors.lastname: Orsini
authors.forename: Veronica
authors.initials: V
authors.lastname: Bertini
authors.forename: Benedetta
authors.initials: B
authors.lastname: Toschi
authors.forename: Alice
authors.initials: A
authors.lastname: Bonuccelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Simi
authors.forename: Irene
authors.initials: I
authors.lastname: Sammartino
authors.forename: Grazia
authors.initials: G
authors.lastname: Taddeucci
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Saggese
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004829:Epilepsy, Generalized / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D009006:Monosomy / Q000175:diagnosis* / Q000235:genetics