Monosomy 9p24→pter and trisomy 5q31→qter: Case report and review of two cases

Lisa A Schimmenti, R. R. Higgins, N. J. Mendelsohn, T. M. Casey, Julia Steinberger, Mark C Mammel, G. L. Wiesner

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Partial deletion of the short arm of chromosome 9 (p24→pter) and partial duplication of the long arm of chromosome 5 (q32→qter) were observed in an abnormal boy who died at age 8 weeks of a complex cyanotic cardiac defect. He also had minor anomalies, sagittal craniosynostosis, triphalangeal thumbs, hypospadias, and a bifid scrotum. Two other infants with similar cytogenetic abnormalities were described previously. These patients had severe congenital heart defect, genitourinary anomalies, broad nasal bridge, low hairline, apparently low-set ears, short neck, and triphalangeal thumbs, in common with our patient. We suggest that combined monosomy 9p23,24→pter and trisomy 5q31,32→qter may constitute a clinically recognizable syndrome.

Original languageEnglish (US)
Pages (from-to)52-56
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1995


  • congenital heart disease
  • deletion/duplication
  • monosomy 9p
  • trisomy 5q
  • unbalanced translocation


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