Details

Autor(en) / Beteiligte

• Portnoï, Marie-France
• Bouayed-Abdelmoula, Nouha
• Mirc, Myriam
• Zemni, Ramzi
• Castaing, Henry
• Stephann, Julie
• Ardalan, Azarnouche
• Vialard, François
• Nouchy, Marc
• Daoud, Patrick
• Chelly, Jamel
• Taillemite, Jean-Louis

Titel

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

Ist Teil von

• Clinical genetics, 2000-08, Vol.58 (2), p.116-122

Ort / Verlag

Copenhagen: Munksgaard International Publishers

Erscheinungsjahr

2000

Quelle

MEDLINE

Beschreibungen/Notizen

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