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The patient also has a triangular face, downturned angles of the mouth, micrognathia, and minor limb malformations including mild talipes equinovarus, genu recurvatum, and increased dorsiflexion of both limbs. Cytogenetic analysis using standard GTG banding showed a female karyotype with a satellited\u2010like structure at the distal long arm of one chromosome 15. Silver staining of the nucleolar organizing region (AgNOR) confirmed the presence of a satellite DNA translocation at the lesion. Analysis using fluorescent in situ hybridization (FISH) detected a subtelomeric deletion of the terminal 15q. Additional molecular analysis using microsatellite markers along the long arm of chromosome 15 defined a maximally deleted region at approximately 4.7 Mb. Haploinsufficiency of the <jats:italic>IGF1R<\/jats:italic> gene expression is thought to be the cause of growth delay in all 15q terminal deletion including our patient. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31581","type":"journal-article","created":{"date-parts":[[2007,1,18]],"date-time":"2007-01-18T19:51:43Z","timestamp":1169149903000},"page":"271-276","source":"Crossref","is-referenced-by-count":24,"title":["De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth 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