Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis.
We report on the unusual cytogenetic findings in a newborn boy with severe hydrops fetalis. He has a mosaic for 2 unbalanced chromosome rearrangements: a der(18)-t(4;18)(q31;q23) and a der(18)t(4;18)(q31;p11). As a result, this patient had a duplication of 4q31-qter in all cells, and was possibly monosomic for the distal ends of 18p and 18q, respectively in the 2 cell lines. Since in both rearrangements the same chromosome 4 segment was translocated to 2 different chromosome regions, we consider the present finding as a peculiar type of jumping translocation.
Duval
E
E
Department of Pediatrics, University Hospital Gent, Belgium.
van den Enden
A
A
Vanhaesebrouck
P
P
Speleman
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D003456:Cryptorchidism / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics*; D007021:Hypospadias / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010159:Palate / Q000002:abnormalities; D014178:Translocation, Genetic