NUMEROUS STUDIES have related multiple congenital abnormalities to chromosomal aberrations involving translocations. Several examples of D1 or E trisomy have resulted from translocations involving D or E group chromosomes.1-6 Translocations involving two D group members (D/D) or two E group members (E/E) without trisomy have also been observed.4,7-11 The present report describes a patient with several abnormalities and only 45 chromosomes, including a chromosome resulting from a translocation between a D and an E group member (D/E). There has been only one report of a patient having 45 chromosomes with a D/E translocation.12
Report of a Case
The patient is a 4-month-old white male infant born at term to a 21-year-old Rh positive, gravida 1 woman after an unremarkable pregnancy. The labor was spontaneous and the delivery, uncomplicated. Birth weight was 6 lbs 10 oz (3,005 gm), and the only abnormalities noted were bilateral cephalohematomata.The
TOWNES PL, ZIEGLER NA. D/E (13-15/17-18) Translocation: Occurrence in an Infant With 45 Chromosomes. Am J Dis Child. 1965;110(6):686–688. doi:10.1001/archpedi.1965.02090030714019
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