title: Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.
abstract: Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome.
authors.affiliation: Our Lady's Children's Hospital, National Centre for Medical Genetics, Dublin, Ireland.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: McBrien
authors.forename: John Anthony
authors.initials: JA
authors.lastname: Crolla
authors.forename: Shuwen
authors.initials: S
authors.lastname: Huang
authors.forename: Jerry
authors.initials: J
authors.lastname: Kelleher
authors.forename: John
authors.initials: J
authors.lastname: Gleeson
authors.forename: Sally Ann
authors.initials: SA
authors.lastname: Lynch
mesh_terms: D000273:Adipose Tissue / Q000002:abnormalities; D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D011859:Radiography; D012097:Repressor Proteins; D014034:Toes / Q000002:abnormalities; D014157:Transcription Factors / Q000235:genetics*; D000099058:Exostosin 1
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1