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  • Title: Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
    Author: Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL.
    Journal: Am J Med Genet; 1995 May 22; 57(1):52-6. PubMed ID: 7645598.
    Abstract:
    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.
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