title: A FURTHER PATIENT OF PURE 15q DELETION: CLINICAL AND MOLECULAR CYTOGENETIC FINDINGS.
abstract: A deletion of the distal long arm of chromosome 15 is generally reported with the formation of ring chromosome 15, whereas an isolated 15q deletion is rarely described. Here we report an 11 year-old girl, from non-consanguineous parents, who was referred to the Pediatric Genetics Department with growth retardation and multiple congenital abnormalities. In her medical history, she had a cleft palate, hip dislocation and crossed renal ectopia. Dysmorphological evaluation revealed a triangular face, low-set ears, fissured cleft tongue, micrognathia, proximally placed hypoplastic thumbs, genu valgus, 2-3 toe skin syndactyly, clinodactyly and nail hypoplasia. Speech problems were also noticed. The karyotype was normal. Subtelomeric fluorescent in-situ hybridisation (FISH) analysis showed a de novo terminal deletion about 755 kb. Furthermore, the breakpoint was located within the CHSY1 gene that is responsible for Temtamy preaxial brachydactyly syndrome which shares clinical features with 15qter deletion syndrome. To the best of our knowledge, this deletion is the smallest among reported patients. It is considered that the patient presented here significant contribution to phenotype-genotype correlation in 15q deletion patients.
authors.forename: A Ece
authors.initials: AE
authors.lastname: Solmaz
authors.forename: B
authors.initials: B
authors.lastname: Durmaz
authors.forename: M D
authors.initials: MD
authors.lastname: Braekeleer
authors.forename: O
authors.initials: O
authors.lastname: Cogulu
authors.forename: F
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003582:Cytogenetics; D005260:Female; D014453:Glucuronosyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007805:Language Development Disorders / Q000235:genetics*; D064251:Multifunctional Enzymes; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics
chemical_list: D064251:Multifunctional Enzymes; D017350:N-Acetylgalactosaminyltransferases; D014453:Glucuronosyltransferase; C498800:CHSY1 protein, human