Del Xq23 in a Mosaic Turner Female: Molecular and Cytogenetic Studies

We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted...

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Bibliographic Details
Published in:	Annales de génétique Vol. 44; no. 4; pp. 171 - 174
Main Authors:	Mesa-Cornejo, Viviana Matilde, García-Cruz, Diana, Monroy-Jaramillo, Nancy, Vásquez, Ana Isabel, Dávalos, Nory Omayra, Galaviz, Carlos, Kofman, Susana
Format:	Journal Article
Language:	English
Published:	Paris Elsevier SAS 01-10-2001 Société d'édition de l'association d'enseignement médical des hôpitaux de Paris
Subjects:	Adult Biological and medical sciences Chromosome aberrations Chromosome Deletion Female gonadal dysgenesis Humans Karyotyping Lymphocytes - blood Lymphocytes - pathology Medical genetics Medical sciences Metaphase - genetics Microsatellite Repeats microsatellites Mosaicism Polymerase Chain Reaction - methods Recombination, Genetic Turner mosaic Turner Syndrome - genetics X Chromosome Xq23 deletion microsatellites X-chromosome Turner mosaic gonadal dysgenesis Xq23 deletion Human Recombination Late Maternal origin Family study Partial deletion Probability Chromosome Marker Inactivation Probe Telomere Case study Signal Fluorescence in situ hybridization Cytogenetics Female Replication Karyotype
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