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Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Abstract

Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia.

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  • Authors+Show Affiliations

    ,

    Department of Medical Biology and Genetics, Dokuz Eylul University, Izmir, Turkey.

    , , , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Chromosome Deletion
    Chromosomes, Human, Pair 14
    Developmental Disabilities
    Heart Defects, Congenital
    Humans
    In Situ Hybridization, Fluorescence
    Male
    Phenotype
    Plagiocephaly

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    21204233

    Citation

    Cingöz, Sultan, et al. "Interstitial Deletion of 14q24.3-q32.2 in a Male Patient With Plagiocephaly, BPES Features, Developmental Delay, and Congenital Heart Defects." American Journal of Medical Genetics. Part A, vol. 155A, no. 1, 2011, pp. 203-6.
    Cingöz S, Bache I, Bjerglund L, et al. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A. 2011;155A(1):203-6.
    Cingöz, S., Bache, I., Bjerglund, L., Ropers, H. H., Tommerup, N., Jensen, H., ... Tümer, Z. (2011). Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. American Journal of Medical Genetics. Part A, 155A(1), pp. 203-6. doi:10.1002/ajmg.a.33766.
    Cingöz S, et al. Interstitial Deletion of 14q24.3-q32.2 in a Male Patient With Plagiocephaly, BPES Features, Developmental Delay, and Congenital Heart Defects. Am J Med Genet A. 2011;155A(1):203-6. PubMed PMID: 21204233.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. AU - Cingöz,Sultan, AU - Bache,Iben, AU - Bjerglund,Lise, AU - Ropers,Hans-Hilger, AU - Tommerup,Niels, AU - Jensen,Hanne, AU - Brøndum-Nielsen,Karen, AU - Tümer,Zeynep, PY - 2011/1/5/entrez PY - 2011/1/5/pubmed PY - 2011/5/18/medline SP - 203 EP - 6 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 155A IS - 1 N2 - Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/21204233/Interstitial_deletion_of_14q24_3_q32_2_in_a_male_patient_with_plagiocephaly_BPES_features_developmental_delay_and_congenital_heart_defects_ L2 - https://doi.org/10.1002/ajmg.a.33766 DB - PRIME DP - Unbound Medicine ER -