Version 2.77

Description

The 17p13.3 chromosome region has been associated with at least two different syndromes: Miller-Dieker lissencephaly syndrome is a result of contiguous gene deletion in the 17p13.3 region, while chromosome 17p13.3 duplication syndrome is a result of contiguous gene duplication in the same area. Miller-Dieker lissencephaly is inherited in an autosomal dominant pattern and involves deletion or mutation in the LIS1 gene on 17p13.3. Clinical manifestations include lissencephally, microcephaly, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and seizures. Most patients diagnosed with Miller-Dieker die during early childhood. [OMIM: 247200] The duplication syndrome is associated with a variable phenotype depending on the genes that are duplicated, and clinical manifestations may include microcephaly, dysgenesis of the corpus callosum, neurobehavioral disorders and facial dysmorphism. [OMIM: 613215] Source: Regenstrief LOINC,

Basic Part Properties

Part Display Name
Chromosome region 17p13.3
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-30
Construct for LOINC Short Name
Chr 17p13.3

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208595-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 染色体区域 17p13.3
Synonyms: 染色体区域（染色体部位、染色体区、染色体区带、染色体部） 17p13.3
es-ES Spanish (Spain) Región cromosómica 17p13.3
it-IT Italian (Italy) Regione cromosomica 17p13.3
nl-NL Dutch (Netherlands) chromosoomgebied 17p13.3
pl-PL Polish (Poland) Region chromosomowy 17p13.3