title: A familial interstitial 4q35 deletion with no discernible clinical effects.
abstract: Small deletions on the long arm of distal chromosome 4 do not appear to result in gross congenital malformations, with the most frequently reported clinical findings including mild to moderate intellectual disability, learning disabilities and minor dysmorphic features. Here we report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion with no discernible phenotypic effects in a mother and her two daughters. The karyotypes of the mother and her two daughters were: 46,XX,del(4)(q35.1q35.2). Based on the results of FISH analyses using whole chromosome specific and subtelomeric probes, the karyotype was designated as: 46,XX,del(4)(q35.1q35.2). ish del(4)(q35-qter)(WCP4+, 36P21+, dJ963K6-). Array-CGH analysis showed an interstitial deletion encompassing 5.75 Mb in the 4q35.1-q35.2 genomic region (chr4:184,717,878-190,469,337; hg19). This is the first report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion in which there are no discernible phenotypic effects. Both our findings and a review of the literature suggest that more detailed molecular analyses are needed in cases with distal chromosome 4 long arm deletions especially those with breakpoints in the 4q35 region to establish a more precise genotype-phenotype correlation.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Sezin
authors.initials: S
authors.lastname: Yakut
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Ozden Altiok
authors.initials: OA
authors.lastname: Clarck
authors.affiliation: Department of Obstetrics and Gynaecology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Cem
authors.initials: C
authors.lastname: Sanhal
authors.affiliation: Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Banu Guzel
authors.initials: BG
authors.lastname: Nur
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Inanc
authors.initials: I
authors.lastname: Mendilcioglu
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors.forename: Sibel Berker
authors.initials: SB
authors.lastname: Karauzum
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Cetin
mesh_terms: D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence
keywords: 4q35 deletion; 4q35 interstitial deletion; chromosome 4 long arm deletion; familial 4q35 deletion; prenatal diagnosis