An Unbalanced Mosaic Structural Chromosome Abnormality: a Case Study

Helen Z Wilkin1, Amanda Beament1, Annie Falcone1, Lucy Gugasyan1, and Abhijit Kulkarni1

1 Cytogenetics, Monash Pathology, Monash Health, Clayton, Victoria

Somatic mosaicism for an unbalanced structural chromosome anomaly is a rare phenomenon. Due to the rapid cell population turnover, cytogenetic testing of blood may not be sufficient to detect this mosaicism and may therefore require analysis of an alternate tissue such as fibroblasts. Phenotypically, a skin pigment anomaly such as hypomelanosis of Ito, can be suggestive of a mosaic unbalanced chromosome abnormality and analysis of more than one tissue type is therefore beneficial. We report the identification of a mosaic unbalanced structural chromosome 13 anomaly in the skin but not detected in the blood of a newborn.



Helen has worked in Cytogenetics in four countries – the UK (where she grew up), USA (on an exchange program), New Zealand and several labs in Australia. She has experience in both constitutional and haematological cytogenetics, but has most experience in the prenatal field. She has been an associate assessor for the ASDG QAP program for three years.

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