title: Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
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.
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, USA.
authors.forename: L A
authors.initials: LA
authors.lastname: Schimmenti
authors.forename: R R
authors.initials: RR
authors.lastname: Higgins
authors.forename: N J
authors.initials: NJ
authors.lastname: Mendelsohn
authors.forename: T M
authors.initials: TM
authors.lastname: Casey
authors.forename: J
authors.initials: J
authors.lastname: Steinberger
authors.forename: M C
authors.initials: MC
authors.lastname: Mammel
authors.forename: G L
authors.initials: GL
authors.lastname: Wiesner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001344:Autopsy; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D002899:Chromosomes, Human, Pair 9; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D013577:Syndrome; D014314:Trisomy