title: A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.
abstract: Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with variable frequency. The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation, whereas more distal deletions in 5p15.3 lead to cat-like cry and speech delay and produce the clinical picture of the atypical cri du chat syndrome, with minimal or absent intellectual impairment. In this article we report a three-generation family with an unbalanced whole arm translocation between chromosome 5 and 15 and a microdeletion of 5.5 Mb involving 5p15.33-32. By reporting the smallest terminal deletion of 5p15.3 described so far and by reviewing the literature we discuss the genotype/phenotype correlations of the distal region of the cri du chat syndrome. The previously described critical region for the speech delay may be narrowed down and microcephaly, growth retardation and dysmorphic facial features can be included in the phenotypic expression of the atypical cri du chat syndrome due to 5p15.3 deletions.
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy.
authors.forename: Amira
authors.initials: A
authors.lastname: Elmakky
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy.
authors.forename: Diana
authors.initials: D
authors.lastname: Carli
authors.affiliation: Neonatal Intensive Care Unit, Department of Mother and Child, University Hospital of Modena, Italy.
authors.forename: Licia
authors.initials: L
authors.lastname: Lugli
authors.affiliation: Pediatrics, Department of Obstetrics, Gynecology and Pediatrics, Hospital of Pavullo nel Frignano, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Torelli
authors.affiliation: Pediatrics, Department of Obstetrics, Gynecology and Pediatrics, Hospital of Pavullo nel Frignano, Italy.
authors.forename: Battista
authors.initials: B
authors.lastname: Guidi
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Falcinelli
authors.affiliation: Medical Genetics, Department of Clinical and Experimental Medicine, University Hospital of Ferrara, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Fini
authors.affiliation: Neonatal Intensive Care Unit, Department of Mother and Child, University Hospital of Modena, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Ferrari
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy. Electronic address: percesepe.antonio@unimo.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Percesepe
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003410:Cri-du-Chat Syndrome / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic
keywords: Cri du chat syndrome; array CGH