Skip to content
Journal article

49, XXXXY syndrome

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

  • 6

    Readers

    Mendeley users who have this article in their library.
  • 10

    Citations

    Citations of this article.
  • N/A

    Views

    ScienceDirect users who have downloaded this article.
Sign in to save reference

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.

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

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

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

Authors

  • Hou J.-W.

Cite this document

Choose a citation style from the tabs below