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49, XXXXY syndrome.

Jia-Woei Hou1

  • 1Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, ROC. houjw741@cgmh.org.tw

Chang Gung Medical Journal
|October 29, 2004
PubMed
Summary

XXXXY syndrome, a rare chromosomal disorder, presents with severe congenital anomalies and developmental delays. Early intervention, including surgical repair and rehabilitation, can improve growth and outcomes for affected infants.

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Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • XXXXY syndrome is a rare chromosomal abnormality characterized by the presence of an extra X and Y chromosome in males.
  • This condition is associated with a wide spectrum of congenital anomalies and developmental challenges.

Observation:

  • A 5-month-old male infant presented with failure to thrive and multiple congenital anomalies.
  • Clinical features included microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, micrognathia), umbilical hernia, microphallus, and clenched hands.
  • Cardiac defects such as patent ductus arteriosus, atrial septal defect, and peripheral pulmonary stenosis were identified, along with ventriculomegaly.

Findings:

  • G-banding and fluorescence in situ hybridization confirmed a 47, XXXXY karyotype in all cells.
  • The patient exhibited severe atopic dermatitis with elevated IgE levels and significant psychomotor retardation.

Implications:

  • This case highlights the complex presentation of XXXXY syndrome, emphasizing the need for comprehensive diagnostic evaluation.
  • Multidisciplinary management, including surgical intervention for cardiac defects and supportive care, is crucial for improving patient outcomes.
  • Ongoing rehabilitation programs are essential for addressing the developmental delays associated with this rare genetic disorder.

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