title: Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
abstract: Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis.Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms.Standard G-banding revealed four apparently balanced translocations [corrected] involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.
authors.affiliation: Cytogenetics and Molecular Genetics Unit - Bambino Gesù Children's Hospital, Rome 00165, Italy. mcristina.roberti@opbg.net
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Roberti
authors.forename: Cecilia
authors.initials: C
authors.lastname: Surace
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Gemma
authors.initials: G
authors.lastname: D'Elia
authors.forename: Pietro
authors.initials: P
authors.lastname: Sirleto
authors.forename: Rossella
authors.initials: R
authors.lastname: Capolino
authors.forename: Antonietta
authors.initials: A
authors.lastname: Lombardo
authors.forename: Anna Cristina
authors.initials: AC
authors.lastname: Tomaiuolo
authors.forename: Stefano
authors.initials: S
authors.lastname: Petrocchi
authors.forename: Adriano
authors.initials: A
authors.lastname: Angioni
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002972:Cleft Palate / Q000235:genetics; D003616:Dandy-Walker Syndrome / Q000235:genetics; D015321:Gene Rearrangement; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009216:Myopia / Q000235:genetics; D055815:Young Adult