title: Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.
abstract: We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings. A few genes within the deleted region are associated with congenital anomalies, mainly theRBM8A,DUF1220, andHYDIN2paralogs. Our patient presents with a spectrum of unusual malformations of 1q21.1 deletion syndrome not reported up to date.
authors.affiliation: Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
authors.forename: Bruno F
authors.initials: BF
authors.lastname: Gamba
authors.affiliation: Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
authors.forename: Roseli M
authors.initials: RM
authors.lastname: Zechi-Ceide
authors.affiliation: Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
authors.forename: Nancy M
authors.initials: NM
authors.lastname: Kokitsu-Nakata
authors.affiliation: Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
authors.forename: Siulan
authors.initials: S
authors.lastname: Vendramini-Pittoli
authors.affiliation: Centro de Estudos do Genoma Humano, University of São Paulo, São Paulo, Goiania, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.affiliation: Centro de Estudos do Genoma Humano, University of São Paulo, São Paulo, Goiania, Brazil.
authors.forename: Ana C V
authors.initials: AC
authors.lastname: Krepischi Santos
authors.affiliation: Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal De Goias, Goiania, Brazil.
authors.forename: Lucilene
authors.initials: L
authors.lastname: Ribeiro-Bicudo
authors.affiliation: Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
keywords: Dysmorphic features; Intellectual disability; Microdeletion 1q21.1; Skeletal anomalies