Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation

• DOI: 10.1034/j.1399-0004.2000.580205.x
• Publication Date: 2003-03-11T11:24:24Z
• Authors: Marie‐France Portnoï; Nouha Bouayed‐Abd...; Myriam Mirc; Ramzi Zemni; Henry Castaing; Julie Stephann; Azarnouche Ardalan; François Vialard; Marc Nouchy; Patrick Daoud; Jamel Chelly; Jean‐Louis Taille...
• Keywords: dup; Breakpoint

We describe a female infant with severe abnormal phenotype de novo partial duplication of the short arm X chromosome. Chromosome painting confirmed origin this duplication. Molecular cytogenetic analysis fluorescence in situ hybridization (FISH) was performed YAC probes, further delineating breakpoints. The karyotype 46, dup(X)(p11‐p21.2).Cytogenetic replication studies showed that normal and duplicated chromosomes were randomly inactivated lymphocytes. In most females structurally chromosomes, chromosome is they are phenotypically apparently relatives males having dupX. Therefore, case, there functional disomy Xp11‐p21.2 cells an active dup(X), likely resulting clinical findings patient.