title: Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.
abstract: Jacobsen syndrome (JBS) is an uncommon contiguous gene syndrome. About 85-92% of cases have a de novo origin. Clinical variability and severity probably depend on the size of the affected region. The typical clinical features in JBS include intellectual disability, growth retardation, craniofacial dysmorphism as well as craniosynostosis, congenital heart disease, and platelet abnormalities. The proband was a 1 year/3-month-old Mexican male. Oligonucleotide-SNP array analysis using the GeneChip Human Cytoscan HD was carried out for the patient from genomic DNA. The SNP array showed a 14.2-Mb deletion in chromosome 11q23.3q25 (120,706-134,938 Mb), which involved 163 RefSeq genes in the database of genomic variation. We report a novel deletion in JBS that increases the knowledge of the variability in the mutation sites in this region and expands the spectrum of molecular and clinical defects in this syndrome.
authors.affiliation: Departamento de Genética Médica, Universidad Nacional Autónoma de México (UNAM), Mexico City, México.
authors.forename: Etzalli P
authors.initials: EP
authors.lastname: Linares Chávez
authors.affiliation: Departamento de Genética Médica, Centro Médico Ecatepec, ISSEMYM, Edomex México, México.
authors.forename: Jaime
authors.initials: J
authors.lastname: Toral López
authors.affiliation: Departamento de Genética Médica, Universidad Nacional Autónoma de México (UNAM), Mexico City, México.
authors.forename: Juan M
authors.initials: JM
authors.lastname: Valdés Miranda
authors.affiliation: Departamento de Genética Médica, Universidad Nacional Autónoma de México (UNAM), Mexico City, México.
authors.forename: Luz M
authors.initials: LM
authors.lastname: González Huerta
authors.affiliation: Departamento de Genética Médica, Universidad Nacional Autónoma de México (UNAM), Mexico City, México.
authors.forename: Adrian
authors.initials: A
authors.lastname: Perez Cabrera
authors.affiliation: Departamento de Genética Médica, Universidad Nacional Autónoma de México (UNAM), Mexico City, México.
authors.forename: María
authors.initials: M
authors.lastname: Del Refugio Rivera Vega
authors.affiliation: Departamento de Genética Médica, Oftalmología, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), Mexico City, México.
authors.forename: Olga M
authors.initials: OM
authors.lastname: Messina Baas
authors.affiliation: Departamento de Genética Médica, Universidad Nacional Autónoma de México (UNAM), Mexico City, México.
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
keywords: Craniosynostosis; CytoScan HD array; Deletion 11q; Intellectual disability