Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2813932 | European Journal of Medical Genetics | 2013 | 5 Pages |
Abstract
A newborn with severe microcephaly and a history of parental consanguinity was referred for cytogenetic analysis and subsequently for genetic evaluation. While a 46,XY karyotype was eventually obtained, premature chromosome condensation was observed. A head MRI confirmed primary microcephaly. This combination of features focused clinical interest on the MCPH1 gene and directed genetic testing by sequence analysis and duplication/deletion studies disclosed a homozygous deletion of exons 1–11 of the MCPH1 gene. This case illustrates a strength of standard cytogenetic evaluation in directing molecular testing to a single target gene in this disorder, allowing much more rapid diagnosis at a substantial cost savings for this family.
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Authors
Ruthann B. Pfau, Devon Lamb Thrush, Elizabeth Hamelberg, Dennis Bartholomew, Shaun Botes, Matthew Pastore, Christopher Tan, Daniela del Gaudio, Julie M. Gastier-Foster, Caroline Astbury,