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A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

Hill, Anthony D. ; Chang, Bernard S. ; Hill, R. Sean ; Garraway, Levi A. ; Bodell, Adria ; Sellers, William R. ; Walsh, Christopher A.

American journal of medical genetics. Part A, 2007-08, Vol.143A (15), p.1692-1698 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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Título:
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
Autor: Hill, Anthony D. ; Chang, Bernard S. ; Hill, R. Sean ; Garraway, Levi A. ; Bodell, Adria ; Sellers, William R. ; Walsh, Christopher A.
Assuntos: Adolescent ; Agenesis of Corpus Callosum ; Biological and medical sciences ; Brain - pathology ; Child ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; Classical genetics, quantitative genetics, hybrids ; deletion 1q43-1q44 ; DNA - blood ; DNA - genetics ; DNA - isolation & purification ; Female ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Human ; Humans ; Karyotyping ; Magnetic Resonance Imaging ; Male ; Malformations of the nervous system ; Medical genetics ; Medical sciences ; Microcephaly - genetics ; microcephaly and hypoplasia of the corpus callosum ; Mutation ; Neurology ; Polymorphism, Single Nucleotide ; Psychomotor Disorders - genetics ; Seizures - genetics ; terminal 1q deletion syndrome
É parte de: American journal of medical genetics. Part A, 2007-08, Vol.143A (15), p.1692-1698
Notas: NINDS - No. R37 NS035129
ark:/67375/WNG-R6NT2CHH-8
How to cite this article: Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA. 2007. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet Part A 143A:1692-1698.
istex:02C87FE6B4AE5AA48A1BEE4FCAE8AC0CA901B0C2
ArticleID:AJMG31776
How to cite this article: Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA. 2007. A 2‐Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet Part A 143A:1692–1698.
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Descrição: Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42‐1q44, the minimal chromosomal region involved has not been identified. Using microsatellite and single nucleotide polymorphism (SNP) markers, we have mapped the deleted regions in seven patients with terminal deletions of chromosome 1q to define a 2.0‐Mb microcephaly critical region including the 1q43‐1q44 boundary and no more than 11 genes. © 2007 Wiley‐Liss, Inc.
Editor: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Idioma: Inglês

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A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome

Hill, Anthony D. ; Chang, Bernard S. ; Hill, R. Sean ; Garraway, Levi A. ; Bodell, Adria ; Sellers, William R. ; Walsh, Christopher A.

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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