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Eur J Med Genet. 2013 Nov;56(11):609-13. doi: 10.1016/j.ejmg.2013.09.007. Epub 2013 Sep 27.

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

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Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.


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.


Array-based comparative genomic hybridization; Cell cycle proteins; Consanguinity; Cytogenetic analysis; Genes; Human; MCPH1 protein; Microcephaly; Premature chromosome condensation syndrome; Primary autosomal recessive 1; Recessive

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