17 research outputs found
X chromosome replication patterns in a case of X;9 balanced translocation.
No full textA case of X;9 balanced translocation in a female with amenorrhoea is reported. The X breakpoint was at Xq21, inside the 'critical region'. The normal X was consistently late replicating in blood lymphocytes and skin and ovary fibroblasts
Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia)
No full textDown's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.
No full textUnusual presentation of cerebral arteriovenous malformation: report of a case with visual failure.
No full text
A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.
No full text
