title: Molecular and clinical characterization of patients with overlapping 10p deletions.
abstract: Chromosome 10p terminal deletions have been associated with DiGeorge phenotype, and within the same genomic region haploinsufficiency of GATA3 causes the HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia). We have performed detailed molecular analysis of four patients with partial overlapping 10p deletions by using FISH-mapping, array-CGH, and custom-designed high-resolution oligonucleotide array. All four patients had mental retardation and speech impairment and three of them showed variable signs of HDR syndrome. In addition, two patients had autistic behaviors and had similar dysmorphic features giving them a striking physical resemblance. A review of the literature identified 10 previously published cases with similar 10p deletions and reliable molecular or molecular cytogenetic mapping data. The combined information of present and previous cases suggests that partial deletions of 10p14-p15 represent a syndrome with a distinct and more severe phenotype than previously assumed. The main characteristics include severe mental retardation, language impairment, autistic behavior, and characteristic clinical features. A critical region involved in mental retardation and speech impairment is defined within 1.6 Mb in 10p15.3. In addition, deletion of 4.3 Mb within 10p14 is associated with autism and characteristic clinical findings.
authors.affiliation: Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. anna.lindstrand@ki.se
authors.forename: Anna
authors.initials: A
authors.lastname: Lindstrand
authors.forename: Helena
authors.initials: H
authors.lastname: Malmgren
authors.forename: Annapia
authors.initials: A
authors.lastname: Verri
authors.forename: Elisa
authors.initials: E
authors.lastname: Benetti
authors.forename: Maud
authors.initials: M
authors.lastname: Eriksson
authors.forename: Ann
authors.initials: A
authors.lastname: Nordgren
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
authors.forename: Irina
authors.initials: I
authors.lastname: Golovleva
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Schoumans
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Blennow
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy