we present 2 cases of likely rare event. in case 1, 3rd degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. the same inv(6) being inherited in progeny but presented with low amh (anti mullerian hormone) and high level of fsh (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. ...

A Wolf-Hirschhorn syndrome is a rare chromosomal anomaly, which results from deletion of the distal portion short arm chromosome 4 (4p-), diagnosis based on clinical picture, easily recognizable in children, confirmed by molecular cytogenetics. We report case baby with wolf-Hirschhorn revealed status epilepticus.

Multiple myeloma is a slowly proliferating disease of ‘mature B cells’, involving mainly the bone marrow. Active myeloma is often preceded by an indolent phase of monoclonal gammopathy of undetermined significance or smoldering myeloma. Although patients at this stage do not require therapy, genetically, the plasma cells are already very abnormal with the large majority of such patients having ...

Thomas Fogle is Associate Professor and Chair of the Department of Biology at Saint Mary's College. He received his B.A. in Biology from Thiel College, M.A. in Zoology from Southern Illinois University at Carbondale, and Ph.D. in Genetics from North Carolina State University. He teaches introductory biology, genetics, and human genetics. His research interests include human cytogenetics, the cy...