U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Paternal 14q32.2 microdeletion syndrome

MedGen UID:
1842589
•Concept ID:
C5679639
•
Disease or Syndrome
Synonyms: paternal 14q32.2 microdeletion syndrome; Paternal del(14)(q32.2); paternal del(14)(q32.2); paternal monosomy 14q32.2; Temple syndrome due to paternal 14q32.2 microdeletion
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:0016780
Orphanet: ORPHA254525

Term Hierarchy

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

Recent clinical studies

Diagnosis

Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report.
Huang H, Mikami Y, Shigematsu K, Uemura N, Shinsaka M, Iwatani A, Miyake F, Kabe K, Takai Y, Saitoh M, Baba K, Seki H
J Med Case Rep 2019 Nov 22;13(1):340. doi: 10.1186/s13256-019-2298-y. PMID: 31753000Free PMC Article
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.
van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF
Eur J Hum Genet 2016 Dec;24(12):1724-1729. Epub 2016 Jul 13 doi: 10.1038/ejhg.2016.82. PMID: 27406249Free PMC Article
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
Ogata T, Kagami M
J Hum Genet 2016 Feb;61(2):87-94. Epub 2015 Sep 17 doi: 10.1038/jhg.2015.113. PMID: 26377239Free PMC Article
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ
Hum Mol Genet 2010 May 15;19(10):1967-73. Epub 2010 Feb 23 doi: 10.1093/hmg/ddq075. PMID: 20179077

Prognosis

Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation.
Higashiyama H, Ohsone Y, Takatani R, Futatani T, Kosaki R, Kagami M
Eur J Med Genet 2022 Oct;65(10):104580. Epub 2022 Aug 8 doi: 10.1016/j.ejmg.2022.104580. PMID: 35953028
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ
Hum Mol Genet 2010 May 15;19(10):1967-73. Epub 2010 Feb 23 doi: 10.1093/hmg/ddq075. PMID: 20179077

Clinical prediction guides

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Baena N, Monk D, Aguilera C, Fraga MF, Fernández AF, Gabau E, Corripio R, Capdevila N, Trujillo JP, Ruiz A, Guitart M
Clin Epigenetics 2024 May 7;16(1):62. doi: 10.1186/s13148-024-01652-8. PMID: 38715103Free PMC Article
Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report.
Huang H, Mikami Y, Shigematsu K, Uemura N, Shinsaka M, Iwatani A, Miyake F, Kabe K, Takai Y, Saitoh M, Baba K, Seki H
J Med Case Rep 2019 Nov 22;13(1):340. doi: 10.1186/s13256-019-2298-y. PMID: 31753000Free PMC Article
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.
Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ
Hum Mol Genet 2010 May 15;19(10):1967-73. Epub 2010 Feb 23 doi: 10.1093/hmg/ddq075. PMID: 20179077

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...