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Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

Abstract

High resolution oligonucleotide array Comparative Genome Hybridization technology (array-CGH) has greatly assisted the recognition of the 1p36 contiguous gene deletion syndrome. The 1p36 deletion syndrome is considered to be one of the most common subtelomeric microdeletion syndromes and has an incidence of ~1 in 5000 live births, while respectively the "pure" 1p36 microduplication has not been reported so far. We present seven new patients who were referred for genetic evaluation due to Developmental Delay (DD), Mental Retardation (MR), and distinct dysmorphic features. They all had a wide phenotypic spectrum. In all cases previous standard karyotypes were negative. Array-CGH analysis revealed five patients with interstitial 1p36 microdeletion (four de novo and one maternal) and two patients with de novo reciprocal duplication of different sizes. These were the first reported "pure" 1p36 microduplication cases so far. Three of our patients carrying the 1p36 microdeletion syndrome were also found to have additional pathogenetic aberrations. These findings (del 3q27.1; del 4q21.22-q22.1; del 16p13.3; dup 21q21.2-q21.3; del Xp22.12) might contribute to the patients' severe phenotype, acting as additional modifiers of their clinical manifestations. We review and compare the clinical and array-CGH findings of our patients to previously reported cases with the aim of clearly delineating more accurate genotype-phenotype correlations for the 1p36 syndrome that could allow for a more precise prognosis.

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  • Authors+Show Affiliations

    ,

    Department of Medical Genetics, Medical School, University of Athens, Greece. giannikou_krinio@yahoo.gr

    , , , , , ,

    Source

    Gene 506:2 2012 Sep 15 pg 360-8

    MeSH

    Adolescent
    Child
    Child, Preschool
    Chromosome Deletion
    Chromosome Disorders
    Chromosome Duplication
    Chromosomes, Human, Pair 1
    Comparative Genomic Hybridization
    Cytogenetics
    Developmental Disabilities
    Female
    Gene Deletion
    Genetic Association Studies
    Humans
    Infant
    Intellectual Disability
    Karyotyping
    Male
    Prognosis

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    22766398

    Citation

    Giannikou, Krinio, et al. "Further Delineation of Novel 1p36 Rearrangements By array-CGH Analysis: Narrowing the Breakpoints and Clarifying the "extended" Phenotype." Gene, vol. 506, no. 2, 2012, pp. 360-8.
    Giannikou K, Fryssira H, Oikonomakis V, et al. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype. Gene. 2012;506(2):360-8.
    Giannikou, K., Fryssira, H., Oikonomakis, V., Syrmou, A., Kosma, K., Tzetis, M., ... Kanavakis, E. (2012). Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype. Gene, 506(2), pp. 360-8. doi:10.1016/j.gene.2012.06.060.
    Giannikou K, et al. Further Delineation of Novel 1p36 Rearrangements By array-CGH Analysis: Narrowing the Breakpoints and Clarifying the "extended" Phenotype. Gene. 2012 Sep 15;506(2):360-8. PubMed PMID: 22766398.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype. AU - Giannikou,Krinio, AU - Fryssira,Helen, AU - Oikonomakis,Vasilis, AU - Syrmou,Areti, AU - Kosma,Konstantina, AU - Tzetis,Maria, AU - Kitsiou-Tzeli,Sofia, AU - Kanavakis,Emmanouel, Y1 - 2012/07/02/ PY - 2012/05/22/received PY - 2012/06/19/accepted PY - 2012/7/7/entrez PY - 2012/7/7/pubmed PY - 2012/10/18/medline SP - 360 EP - 8 JF - Gene JO - Gene VL - 506 IS - 2 N2 - High resolution oligonucleotide array Comparative Genome Hybridization technology (array-CGH) has greatly assisted the recognition of the 1p36 contiguous gene deletion syndrome. The 1p36 deletion syndrome is considered to be one of the most common subtelomeric microdeletion syndromes and has an incidence of ~1 in 5000 live births, while respectively the "pure" 1p36 microduplication has not been reported so far. We present seven new patients who were referred for genetic evaluation due to Developmental Delay (DD), Mental Retardation (MR), and distinct dysmorphic features. They all had a wide phenotypic spectrum. In all cases previous standard karyotypes were negative. Array-CGH analysis revealed five patients with interstitial 1p36 microdeletion (four de novo and one maternal) and two patients with de novo reciprocal duplication of different sizes. These were the first reported "pure" 1p36 microduplication cases so far. Three of our patients carrying the 1p36 microdeletion syndrome were also found to have additional pathogenetic aberrations. These findings (del 3q27.1; del 4q21.22-q22.1; del 16p13.3; dup 21q21.2-q21.3; del Xp22.12) might contribute to the patients' severe phenotype, acting as additional modifiers of their clinical manifestations. We review and compare the clinical and array-CGH findings of our patients to previously reported cases with the aim of clearly delineating more accurate genotype-phenotype correlations for the 1p36 syndrome that could allow for a more precise prognosis. SN - 1879-0038 UR - https://www.unboundmedicine.com/medline/citation/22766398/Further_delineation_of_novel_1p36_rearrangements_by_array_CGH_analysis:_narrowing_the_breakpoints_and_clarifying_the_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0378-1119(12)00770-6 DB - PRIME DP - Unbound Medicine ER -