title: A new familial case of microdeletion syndrome 10p15.3.
abstract: In 2012 a small terminal deletion in the short arm of chromosome 10 in the region 10p15.3 was reported as a novel microdeletion syndrome. By now 21 patients, including a single familial case, have been reported. Characteristic findings comprise variable cognitive impairment or developmental delay, disorder of speech development, as well as various dysmorphic signs. We here report on a new patient, an eight year old girl, with a microdeletion syndrome 10p15.3. She is a foster child showing intellectual deficits, disorder of speech development, behavioral problems, congenital heart defect, and several dysmorphic signs. The same microdeletion was subsequently found in the six year old maternal half-sister, showing very similar developmental and cognitive issues, including major speech impairment. The mother has not obtained a school degree. She was described as being a dissocial person with severe alcohol abuse and showing minor cognitive disability. Thus inheritance of the microdeletion from a probably symptomatic mother can be assumed. The patients presented here add up to the as yet small number of reported cases of microdeletion 10p15.3 and thereby might help to establish a more comprehensive clinical spectrum of this rather newly discovered syndrome.
authors.affiliation: Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany. Electronic address: Marlene.Eggert@med.uni-muenchen.de.
authors.forename: Marlene
authors.initials: M
authors.lastname: Eggert
authors.affiliation: Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Müller
authors.affiliation: Center for Human Genetics and Laboratory Medicine, Dres. Klein and Rost, Martinsried, Germany.
authors.forename: Uwe
authors.initials: U
authors.lastname: Heinrich
authors.affiliation: Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany.
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Mehraein
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D013064:Speech Disorders / Q000235:genetics* / Q000473:pathology
keywords: 10p15.3 syndrome; Language disorder; Microdeletion