Molecular and clinical characterization of patients with overlapping 10p deletions
2010 (English)In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, Vol. 152A, no 5, 1233-1243 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2010. Vol. 152A, no 5, 1233-1243 p.
partial monosomy 10p; renal dysplasia syndrome; digeorge-syndrome locus; human hdr syndrome; sensorineural deafness; genomic rearrangements; behavior checklist; chromosome 10p; alu repeats; de-novo, complex chromosomal rearrangement; cryptic deletion; chromosome 10; fluorescence in situ hybridization; array-CGH
IdentifiersURN: urn:nbn:se:umu:diva-39261DOI: 10.1002/ajmg.a.33366PubMedID: 20425828OAI: oai:DiVA.org:umu-39261DiVA: diva2:389568