Monosomy 9p24-->pter and trisomy 5q31-->qter: case report and review of two cases.
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.
Schimmenti
L A
LA
Department of Pediatrics, University of Minnesota, Minneapolis, USA.
Higgins
R R
RR
Mendelsohn
N J
NJ
Casey
T M
TM
Steinberger
J
J
Mammel
M C
MC
Wiesner
G L
GL
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