title: Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.
abstract: The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of Saethre-Chotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype.
authors.affiliation: Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil. roselizc@centrinho.usp.br
authors.forename: Roseli Maria
authors.initials: RM
authors.lastname: Zechi-Ceide
authors.forename: Melina Guerreiro
authors.initials: MG
authors.lastname: Rodrigues
authors.forename: Fernanda Sarquis
authors.initials: FS
authors.lastname: Jehee
authors.forename: Nancy Mizue
authors.initials: NM
authors.lastname: Kokitsu-Nakata
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007589:Job Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007859:Learning Disabilities / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype