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49, XXXXY syndrome.

Abstract

49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing.

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  • Authors+Show Affiliations

    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, ROC. houjw741@cgmh.org.tw

    Source

    Chang Gung medical journal 27:7 2004 Jul pg 551-4

    MeSH

    Abnormalities, Multiple
    Chromosomes, Human, X
    Face
    Hand Deformities, Congenital
    Heart Defects, Congenital
    Hernia, Umbilical
    Humans
    In Situ Hybridization, Fluorescence
    Infant
    Karyotyping
    Klinefelter Syndrome
    Male
    Microcephaly
    Sex Chromosome Disorders
    Syndrome
    Treatment Outcome

    Pub Type(s)

    Case Reports
    Comparative Study
    Journal Article

    Language

    eng

    PubMed ID

    15508879

    Citation

    Hou, Jia-Woei. "49, XXXXY Syndrome." Chang Gung Medical Journal, vol. 27, no. 7, 2004, pp. 551-4.
    Hou JW. 49, XXXXY syndrome. Chang Gung Med J. 2004;27(7):551-4.
    Hou, J. W. (2004). 49, XXXXY syndrome. Chang Gung Medical Journal, 27(7), pp. 551-4.
    Hou JW. 49, XXXXY Syndrome. Chang Gung Med J. 2004;27(7):551-4. PubMed PMID: 15508879.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - 49, XXXXY syndrome. A1 - Hou,Jia-Woei, PY - 2004/10/29/pubmed PY - 2005/1/6/medline PY - 2004/10/29/entrez SP - 551 EP - 4 JF - Chang Gung medical journal JO - Chang Gung Med J VL - 27 IS - 7 N2 - 49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Ventriculomegaly and congenital cardiac defects (patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis) were noted. He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing. SN - 2072-0939 UR - https://www.unboundmedicine.com/medline/citation/15508879/49_XXXXY_syndrome_ L2 - http://cgmj.cgu.edu.tw/2707/270710.pdf DB - PRIME DP - Unbound Medicine ER -