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8p23.1 Duplication Syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "8p23.1 Duplication Syndrome" returned 1 free, full-text review articles. First 1 results:
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
Last Updated: Nov 17, 2011

Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "8p23.1 Duplication Syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "8p23.1 Duplication Syndrome" returned 2 free, full-text research articles. First 2 results:
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.
Last Updated: Aug 20, 2015

The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains 32 genes of which five are currently candidates for the phenotypic features. Here we describe four patients and five families ...

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Last Updated: Dec 10, 2019

The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another prenatal and five postnatal patients with de novo 8p23.1 duplications analyzed with ...

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Last Updated: Dec 13, 2007

The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families in which 8p23.1 duplications have been directly transmitted from mothers to children. Dual-colour fluorescent in situ hybridisation, ...

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