title: A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
abstract: Array-CGH analysis using 244k Agilent oligoarray revealed a de novo 17q21.31 microduplication in a 10-year-old girl with severe psychomotor developmental delay, facial dysmorphism, microcephaly, abnormal digits and hirsutism. The duplication encompassed the MAPT and CRHR1 genes and was reciprocal to the recently described 17q21.31 microdeletion, associated with a recognizable clinical phenotype. Genotyping showed that the duplication was derived from non-allelic homologous recombination of paternal H1 and H2 haplotypes. To our knowledge this is the first report of a patient with a 17q21.31 microduplication.
authors.affiliation: Department of Clinical Genetics, Rigshospitalet, 4052, Blegdamsvej 9, DK-2100 Copenhagen Ø, Denmark. maria.kirchhoff@rh.regionh.dk
authors.forename: Maria
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bisgaard
authors.forename: Morten
authors.initials: M
authors.lastname: Duno
authors.forename: Flemming Juul
authors.initials: FJ
authors.lastname: Hansen
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns; D009693:Nucleic Acid Hybridization; D011596:Psychomotor Disorders / Q000235:genetics*; D018019:Receptors, Corticotropin-Releasing Hormone / Q000235:genetics; D016875:tau Proteins / Q000235:genetics; D000099052:CRF Receptor, Type 1
chemical_list: C054369:MAPT protein, human; D018019:Receptors, Corticotropin-Releasing Hormone; D016875:tau Proteins; D000099052:CRF Receptor, Type 1