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Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay.

Abstract

A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8]. Using chromosomal microdissection, locus-specific fluorescence in situ hybridization (FISH), and PCR with several Y-chromosome markers, the larger supernumerary marker chromosome (SMC) was characterized as a ring Y-chromosome. Detection of the SRY-region explained the male phenotype. The smaller second marker chromosome contained the pericentromeric region of chromosome 8. We suggest that the co-occurrence of a partial Y-chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features.

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  • Authors+Show Affiliations

    ,

    Clinic of Gynecology and Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. jweimer@email.uni-kiel.de

    , , , , , , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Adolescent
    Child
    Chromosomes, Human, Pair 8
    Chromosomes, Human, Y
    Face
    Humans
    In Situ Hybridization, Fluorescence
    Karyotyping
    Klinefelter Syndrome
    Male
    Ring Chromosomes
    Speech Disorders

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    16470789

    Citation

    Weimer, Jörg, et al. "Characterization of Two Supernumerary Marker Chromosomes in a Patient With Signs of Klinefelter Syndrome, Mild Facial Anomalies, and Severe Speech Delay." American Journal of Medical Genetics. Part A, vol. 140, no. 5, 2006, pp. 488-95.
    Weimer J, Metzke-Heidemann S, Plendl H, et al. Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay. Am J Med Genet A. 2006;140(5):488-95.
    Weimer, J., Metzke-Heidemann, S., Plendl, H., Caliebe, A., Grunewald, R., Ounap, K., ... Arnold, N. (2006). Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay. American Journal of Medical Genetics. Part A, 140(5), pp. 488-95.
    Weimer J, et al. Characterization of Two Supernumerary Marker Chromosomes in a Patient With Signs of Klinefelter Syndrome, Mild Facial Anomalies, and Severe Speech Delay. Am J Med Genet A. 2006 Mar 1;140(5):488-95. PubMed PMID: 16470789.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay. AU - Weimer,Jörg, AU - Metzke-Heidemann,Simone, AU - Plendl,Hansjörg, AU - Caliebe,Almuth, AU - Grunewald,Regina, AU - Ounap,Katrin, AU - Tammur,Pille, AU - Jonat,Walter, AU - Bartsch,Oliver, AU - Siebert,Reiner, AU - Arnold,Norbert, PY - 2006/2/14/pubmed PY - 2006/5/31/medline PY - 2006/2/14/entrez SP - 488 EP - 95 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 140 IS - 5 N2 - A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8]. Using chromosomal microdissection, locus-specific fluorescence in situ hybridization (FISH), and PCR with several Y-chromosome markers, the larger supernumerary marker chromosome (SMC) was characterized as a ring Y-chromosome. Detection of the SRY-region explained the male phenotype. The smaller second marker chromosome contained the pericentromeric region of chromosome 8. We suggest that the co-occurrence of a partial Y-chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/16470789/Characterization_of_two_supernumerary_marker_chromosomes_in_a_patient_with_signs_of_Klinefelter_syndrome_mild_facial_anomalies_and_severe_speech_delay_ L2 - https://doi.org/10.1002/ajmg.a.31104 DB - PRIME DP - Unbound Medicine ER -