U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Paternal 14q32.2 hypomethylation syndrome

MedGen UID:
1842839
•Concept ID:
C5680721
•
Disease or Syndrome
Synonyms: paternal 14q32.2 hypomethylation syndrome; Temple syndrome due to paternal 14q32.2 hypomethylation
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016782
Orphanet: ORPHA254531

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPaternal 14q32.2 hypomethylation syndrome

Recent clinical studies

Diagnosis

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
Garza-Mayén G, Ulloa-Avilés V, Villarroel CE, Navarrete-Meneses P, Lieberman-Hernández E, Abreu-González M, Márquez-Quiroz L, Azotla-Vilchis C, Cifuentes-Goches JC, Del Castillo-Ruiz V, Durán-McKinster C, Pérez-Vera P, Salas-Labadía C
Eur J Med Genet 2021 May;64(5):104199. Epub 2021 Mar 18 doi: 10.1016/j.ejmg.2021.104199. PMID: 33746039

Clinical prediction guides

UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
Garza-Mayén G, Ulloa-Avilés V, Villarroel CE, Navarrete-Meneses P, Lieberman-Hernández E, Abreu-González M, Márquez-Quiroz L, Azotla-Vilchis C, Cifuentes-Goches JC, Del Castillo-Ruiz V, Durán-McKinster C, Pérez-Vera P, Salas-Labadía C
Eur J Med Genet 2021 May;64(5):104199. Epub 2021 Mar 18 doi: 10.1016/j.ejmg.2021.104199. PMID: 33746039

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...