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Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

Abstract

The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome.

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  • Authors+Show Affiliations

    ,

    Department of Pathology, West Virginia University School of Medicine, Morgantown, West Virginia 26506-9203, USA.

    , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Child
    Chromosome Banding
    Chromosome Deletion
    Chromosomes, Human, Pair 11
    Craniofacial Abnormalities
    Developmental Disabilities
    Female
    Heart Defects, Congenital
    Humans
    In Situ Hybridization, Fluorescence
    Karyotyping
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    16502431

    Citation

    Wenger, Sharon L., et al. "Molecular Characterization of an 11q Interstitial Deletion in a Patient With the Clinical Features of Jacobsen Syndrome." American Journal of Medical Genetics. Part A, vol. 140, no. 7, 2006, pp. 704-8.
    Wenger SL, Grossfeld PD, Siu BL, et al. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. Am J Med Genet A. 2006;140(7):704-8.
    Wenger, S. L., Grossfeld, P. D., Siu, B. L., Coad, J. E., Keller, F. G., & Hummel, M. (2006). Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. American Journal of Medical Genetics. Part A, 140(7), pp. 704-8.
    Wenger SL, et al. Molecular Characterization of an 11q Interstitial Deletion in a Patient With the Clinical Features of Jacobsen Syndrome. Am J Med Genet A. 2006 Apr 1;140(7):704-8. PubMed PMID: 16502431.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. AU - Wenger,Sharon L, AU - Grossfeld,Paul D, AU - Siu,Benjamin L, AU - Coad,James E, AU - Keller,Frank G, AU - Hummel,Marybeth, PY - 2006/2/28/pubmed PY - 2006/5/31/medline PY - 2006/2/28/entrez SP - 704 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 140 IS - 7 N2 - The 11q terminal deletion disorder or Jacobsen syndrome is a contiguous gene disorder. It is characterized by psychomotor retardation, cardiac defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. We report on a female patient with an approximately 10 Mb interstitial deletion with many of the features of Jacobsen syndrome: A congenital heart defect, dysmorphic features, developmental delay, and Paris-Trousseau syndrome. The karyotype of the patient is 46,XX,del(11)(q24.1q24.3). The interstitial deletion was confirmed using FISH probes for distal 11q, and the breakpoints were characterized by microarray analysis. This is the first molecularly characterized interstitial deletion in a patient with the clinical features of Jacobsen syndrome. The deletion includes FLI-1, but not JAM-3, which will help to determine the critical genes involved in this syndrome. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/16502431/Molecular_characterization_of_an_11q_interstitial_deletion_in_a_patient_with_the_clinical_features_of_Jacobsen_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.31146 DB - PRIME DP - Unbound Medicine ER -