Disorders


 

Microcephalic Osteodysplastic Primordial Dwarfism, Type II


Synonym(s): Majewski Osteodysplastic Primordial Dwarfism Type II, MOPDII

 

OMIM

GeneLocusProtein
PCNT21q22.3Pericentrin

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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