Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro.
An unusual structural rearrangement of the Y chromosome resulting in seven different cell lines was found in a male infant with coronal synostosis as the only major clinical symptom. At least three different events must have occurred to explain the patient's karyotype: nondisjunction, chromosome breakage followed by translocation, and tetraploidization followed by somatic recombination. In addition, the structurally abnormal Y chromosome appeared to be unstable in vitro.
D002478:Cells, Cultured; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D012730:Sex Chromosomes; D012886:Skull / Q000002:abnormalities*; D014178:Translocation, Genetic; D014998:Y Chromosome