title: Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
abstract: We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11-q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes.
authors.affiliation: Department of Genetics, Institute of Child Health, Athens, Greece. csarri@ich.gr
authors.forename: Catherine
authors.initials: C
authors.lastname: Sarri
authors.forename: Sofia
authors.initials: S
authors.lastname: Douzgou
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Gyftodimou
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Kirstine
authors.initials: K
authors.lastname: Ravn
authors.forename: Angela
authors.initials: A
authors.lastname: Pasparaki
authors.forename: Theologia
authors.initials: T
authors.lastname: Sarafidou
authors.forename: Harry
authors.initials: H
authors.lastname: Kontos
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: Georgia
authors.initials: G
authors.lastname: Karadima
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Effie
authors.initials: E
authors.lastname: Pandelia
authors.forename: Virginia
authors.initials: V
authors.lastname: Theodorou
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Moschonas
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D000293:Adolescent; D057215:Body Dysmorphic Disorders / Q000235:genetics / Q000473:pathology; D002503:Centromere / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics; D058674:Chromosome Duplication; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D040582:Inheritance Patterns; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D009697:Nucleolus Organizer Region / Q000235:genetics; D010641:Phenotype; D011296:Prenatal Diagnosis; D016615:Telomere / Q000235:genetics; D014178:Translocation, Genetic