A small supernumerary marker chromosome X identified by in situ hybridization
- 1 May 1995
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 47 (5) , 270-273
- https://doi.org/10.1111/j.1399-0004.1995.tb04310.x
Abstract
Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.Keywords
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