Article
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
Journal of medical genetics - 1 Nov 1998
Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette M F, Mattei M G
Abstract excerpt
We report on the characterisation of a complex chromosome rearrangement, 46,X,del(Xq)/47,X,del(Xq),+r(X), in a female newborn with multiple malformations. Cytogenetic and molecular methods showed that the del(Xq) contains the XIST locus and is non-randomly inactivated in all metaphases. The tiny...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Deletion
- Dosage Compensation, Genetic
- Female
- Genomic Imprinting
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Isochromosomes
- Karyotyping
- Male
- Pedigree
- Phenotype
- RNA, Long Noncoding