Journal article

49, XXXXY syndrome

Chang Gung Medical Journal, vol. 27, issue 7 (2004) pp. 551-554

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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.

Author-supplied keywords

  • article
  • atopic dermatitis
  • case report
  • chromosome analysis
  • cleft palate
  • clinical feature
  • congenital heart disease
  • cornea disease
  • face dysmorphia
  • failure to thrive
  • fluorescence in situ hybridization
  • genetic analysis
  • heart atrium septum defect
  • heart murmur
  • human
  • human tissue
  • hypertelorism
  • infant
  • karyotype 49,XXXXY
  • male
  • microcephaly
  • micrognathia
  • micropenis
  • multiple malformation syndrome
  • nutritional status
  • patent ductus arteriosus
  • psychomotor retardation
  • pulmonary valve stenosis
  • rare disease
  • sex chromosome aberration
  • umbilical hernia

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  • SCOPUS: 2-s2.0-4544365189
  • PUI: 39215409
  • ISBN: 0255-8270
  • PMID: 15508879
  • ISSN: 0255-8270
  • SGR: 4544365189


  • Hou J.-W.

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