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

Autor: Pfau RB; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2013 Nov; Vol. 56 (11), pp. 609-13. Date of Electronic Publication: 2013 Sep 27.
DOI: 10.1016/j.ejmg.2013.09.007
Abstrakt: 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.
(Copyright © 2013 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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