[Unusual chromosomal rearrangement. An autosomal telomeric translocation on a multicentury satellited Y (Yqs) chromosome].
A new born male infant with craniostenosis and minor phenotypic malformations was found to have a satellited Yq chromosome with, translocated on its satellite, a segment from the terminal part of the long arm of a presumed autosome 14. The rearrangement is de novo since the propositus' father has a non-rearranged satellited Y chromosome and he is, furthermore, a member of a family line in which a Yqs is transmitted in patrilineary fashion since 1668. Such and autosomal translocation on a satellited Y chromosome is a very rare event, because the abnormality makes up a double rearrangement on the same arm of a chromosome, with a three-century interval between the two phenomenons. A presumed partial trisomy 14q is associated with the clinical picture of the case.
D003398:Craniosynostoses / Q000235:genetics*; D003878:Dermatoglyphics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy; D014998:Y Chromosome / Q000648:ultrastructure
Un remaniement chromosomique inhabituel. Une translocation télomérique autosomique sur un Y à satellites (Yqs) multicentenaire.