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A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.

Abstract

Patients with terminal deletions of chromosome 14 usually share a number of clinical features. The syndrome is thought not to be associated with multiple congenital anomalies. We report on a patient having a terminal deletion of about 3.2 Mb, with the breakpoint in 14q32.32. Multiple health problems led to his early death. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH)), we identified two previously reported patients with deletions in the terminal part of chromosome 14 of almost exactly the same size and compare the phenotypes of all three children. The phenotype of the current patient is much more severe than the phenotypes of the two patients reported previously. The patients also present different sets of dysmorphic features described previously as characteristic for 14q deletion syndrome. Molecular cytogenetic mapping showed that the breakpoints in all three patients were clustered within a 240 kb interval. The possibility of recurrent breakpoint location in terminal 14q deletion syndrome, as well as detailed characterization of the spectrum of phenotypes associated with the syndrome, will require the investigation of multiple patients with similar deletions in 14q.

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  • Authors+Show Affiliations

    ,

    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.

    ,

    Source

    MeSH

    Abnormalities, Multiple
    Child
    Child, Preschool
    Chromosome Deletion
    Chromosomes, Human, Pair 14
    Comparative Genomic Hybridization
    Fatal Outcome
    Female
    Genotype
    Humans
    In Situ Hybridization, Fluorescence
    Infant
    Infant, Newborn
    Male
    Phenotype
    Syndrome

    Pub Type(s)

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

    Language

    eng

    PubMed ID

    19365838

    Citation

    Schlade-Bartusiak, Kamilla, et al. "A Child With Terminal 14q Deletion Syndrome: Consideration of Genotype-phenotype Correlations." American Journal of Medical Genetics. Part A, vol. 149A, no. 5, 2009, pp. 1012-8.
    Schlade-Bartusiak K, Ardinger H, Cox DW. A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations. Am J Med Genet A. 2009;149A(5):1012-8.
    Schlade-Bartusiak, K., Ardinger, H., & Cox, D. W. (2009). A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations. American Journal of Medical Genetics. Part A, 149A(5), pp. 1012-8. doi:10.1002/ajmg.a.32752.
    Schlade-Bartusiak K, Ardinger H, Cox DW. A Child With Terminal 14q Deletion Syndrome: Consideration of Genotype-phenotype Correlations. Am J Med Genet A. 2009;149A(5):1012-8. PubMed PMID: 19365838.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations. AU - Schlade-Bartusiak,Kamilla, AU - Ardinger,Holly, AU - Cox,Diane W, PY - 2009/4/15/entrez PY - 2009/4/15/pubmed PY - 2009/6/19/medline SP - 1012 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 149A IS - 5 N2 - Patients with terminal deletions of chromosome 14 usually share a number of clinical features. The syndrome is thought not to be associated with multiple congenital anomalies. We report on a patient having a terminal deletion of about 3.2 Mb, with the breakpoint in 14q32.32. Multiple health problems led to his early death. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH)), we identified two previously reported patients with deletions in the terminal part of chromosome 14 of almost exactly the same size and compare the phenotypes of all three children. The phenotype of the current patient is much more severe than the phenotypes of the two patients reported previously. The patients also present different sets of dysmorphic features described previously as characteristic for 14q deletion syndrome. Molecular cytogenetic mapping showed that the breakpoints in all three patients were clustered within a 240 kb interval. The possibility of recurrent breakpoint location in terminal 14q deletion syndrome, as well as detailed characterization of the spectrum of phenotypes associated with the syndrome, will require the investigation of multiple patients with similar deletions in 14q. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/19365838/A_child_with_terminal_14q_deletion_syndrome:_consideration_of_genotype_phenotype_correlations_ L2 - https://doi.org/10.1002/ajmg.a.32752 DB - PRIME DP - Unbound Medicine ER -