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MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation |
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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 |
| Affiliation: | 1. Department of Pathology and Laboratory Medicine, Nationwide Children''s Hospital, Columbus, OH, USA;2. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA;3. Section of Molecular and Human Genetics, Research Institute, Nationwide Children''s Hospital, Columbus, OH, USA;4. Department of Human Genetics, The University of Chicago, Chicago, IL, USA;5. Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA |
| 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. |
| Keywords: | Cell cycle proteins Array-based comparative genomic hybridization Consanguinity Cytogenetic analysis Genes Recessive MCPH1 protein Human Microcephaly Primary autosomal recessive 1 Premature chromosome condensation syndrome |
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