Mosaicism with a normal cell line and an unbalanced structural rearrangement

Ann‐Leslie Zaslav, Shari Fallet, Donna Blumenthal, Jessy Jacob, Joyce E. Fox

American Journal of Medical Genetics · 1999 · 55 citations · 18 references

Abstract

Mosaicism with a normal cell line (N) and an unbalanced autosomal structural rearrangement (UASR) is rare. This report describes a case of a newborn female with a karyotype of 46,XX,der(4)t(4;15)(q35;q22)/46,XX. Molecular cytogenetic analysis confirmed the origin of the derivative chromosome 4. Here we discuss this case as well as other cases of mosaic karyotypes involving N/UASR.

References

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