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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.
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
January 1983,
La Pediatria medica e chirurgica : Medical and surgical pediatrics,
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
September 1988,
Journal of medical genetics,
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
January 2013,
Genetic counseling (Geneva, Switzerland),
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
April 1985,
Journal of medical genetics,
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
March 1987,
Archives of ophthalmology (Chicago, Ill. : 1960),
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
March 2005,
Ophthalmic genetics,
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
December 2005,
Prenatal diagnosis,
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
January 2011,
Genetic counseling (Geneva, Switzerland),
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
August 1987,
Journal de genetique humaine,
L A Schimmenti, and
R R Higgins, and
N J Mendelsohn, and
T M Casey, and
J Steinberger, and
M C Mammel, and
G L Wiesner
December 1984,
Journal de genetique humaine,
