title: Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
abstract: With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene, known to be associated with microtubule function and to have a role in cell division. Another patient has previously been described with a 10 Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations. Taken together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage-sensitive genes that predispose to developmental delay.
authors.affiliation: Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: Christian
authors.initials: C
authors.lastname: Wentzel
authors.forename: Evica
authors.initials: E
authors.lastname: Rajcan-Separovic
authors.forename: Claudia A L
authors.initials: CA
authors.lastname: Ruivenkamp
authors.forename: Sandra
authors.initials: S
authors.lastname: Chantot-Bastaraud
authors.forename: Corinne
authors.initials: C
authors.lastname: Metay
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Göran
authors.initials: G
authors.lastname: Annerén
authors.forename: Antoinet C J
authors.initials: AC
authors.lastname: Gijsbers
authors.forename: Luc
authors.initials: L
authors.lastname: Druart
authors.forename: Capucine
authors.initials: C
authors.lastname: Hyon
authors.forename: Marie-France
authors.initials: MF
authors.lastname: Portnoi
authors.forename: Eva-Lena
authors.initials: EL
authors.lastname: Stattin
authors.forename: Catherine
authors.initials: C
authors.lastname: Vincent-Delorme
authors.forename: Sarina G
authors.initials: SG
authors.lastname: Kant
authors.forename: Michelle
authors.initials: M
authors.lastname: Steinraths
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
authors.forename: Irina
authors.initials: I
authors.lastname: Giurgea
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome