title: Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.
abstract: We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested similar facial dysmorphic features, intellectual disability, quadriparesis, and progressive cerebrospinal ataxia. The chromosomal aberration found in the proband was inherited from his father who was found to have a balanced reciprocal translocation of chromosomes 3p and 4q, which was in turn inherited from the paternal grandfather. The final cytogenetic diagnosis according to microarray was 46,XY,der(3)t(3;4)(p26.1;q32.2)arr 3p26.1(39,066-5,363,502)x1,4q32.2q35.2(162,555,236-191,173,881)x3. We describe the cytogenetic investigations that led to the identification of the breakpoints. In addition, we present an overview of the clinical features found in patients with partial 3p monosomies and partial 4q trisomies as reported in the literature.
authors.affiliation: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland. petrela1@wp.pl
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Petriczko
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Biczysko-Mokosa
authors.forename: Joanna
authors.initials: J
authors.lastname: Bogdanowicz
authors.forename: Maria
authors.initials: M
authors.lastname: Constantinou
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Zdziennicka
authors.forename: Anita
authors.initials: A
authors.lastname: Horodnicka-Jozwa
authors.forename: Ewa
authors.initials: E
authors.lastname: Barg
authors.forename: Sylwia
authors.initials: S
authors.lastname: Gawlik-Zawislak
authors.forename: Anna
authors.initials: A
authors.lastname: Sulek-Piatkowska
authors.forename: Grazyna
authors.initials: G
authors.lastname: Dawid
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Walczak
authors.forename: Karolina
authors.initials: K
authors.lastname: Pesz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kedzia
authors.forename: Stanislaw
authors.initials: S
authors.lastname: Zajaczek
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014314:Trisomy