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

Pfau, Ruthann B; Thrush, Devon Lamb; Hamelberg, Elizabeth; Bartholomew, Dennis; Botes, Shaun; Pastore, Matthew; Tan, Christopher; del Gaudio, Daniela; Gastier-Foster, Julie M; Astbury, Caroline

Pfau, Ruthann B; Thrush, Devon Lamb; Hamelberg, Elizabeth; Bartholomew, Dennis; Botes, Shaun; Pastore, Matthew; Tan, Christopher; del Gaudio, Daniela; Gastier-Foster, Julie M; Astbury, Caroline.

Affiliation

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

Eur J Med Genet ; 56(11): 609-13, 2013 Nov.

Article in En | MEDLINE | ID: mdl-24080358

Subject(s)

Gene Deletion; Karyotype; Microcephaly/genetics; Nerve Tissue Proteins/genetics; Cell Cycle Proteins; Chromosomes, Human/genetics; Consanguinity; Cytoskeletal Proteins; Exons; Homozygote; Humans; Infant, Newborn; Male; Maxillofacial Abnormalities/diagnosis; Maxillofacial Abnormalities/genetics; Microcephaly/diagnosis; Syndrome

Key words

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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Deletion / Karyotype / Microcephaly / Nerve Tissue Proteins Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: United States

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