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Trisomy 13 Syndromes

MedGen UID:
1379406
Concept ID:
C4319808
Congenital Abnormality
Synonyms: Bartholin Patau Syndrome; Bartholin-Patau Syndrome; Chromosome 13 Trisomy Syndrome; Patau Syndrome; Patau's Syndrome; Pataus Syndrome; Trisomy 13 Syndrome

Definition

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 13 Syndromes

Professional guidelines

PubMed

Carey JC
Am J Perinatol 2021 Sep;38(11):1122-1125. Epub 2021 Jul 26 doi: 10.1055/s-0041-1732363. PMID: 34311488
Su LL, Biswas A, Ho SS, Ponnusamy S, Kothandaraman N, Chia D, Choolani M
Ann Acad Med Singap 2004 Sep;33(5 Suppl):S53-4. PMID: 15651208

Recent clinical studies

Etiology

Satgé D, Nishi M, Sirvent N, Vekemans M
Am J Med Genet C Semin Med Genet 2016 Sep;172(3):296-306. Epub 2016 Jul 30 doi: 10.1002/ajmg.c.31511. PMID: 27474103

Diagnosis

Satgé D, Nishi M, Sirvent N, Vekemans M
Am J Med Genet C Semin Med Genet 2016 Sep;172(3):296-306. Epub 2016 Jul 30 doi: 10.1002/ajmg.c.31511. PMID: 27474103
Wiedmeier SE, Henry E, Christensen RD
Am J Med Genet A 2008 Feb 1;146A(3):312-20. doi: 10.1002/ajmg.a.32107. PMID: 18203174

Recent systematic reviews

Satgé D, Nishi M, Sirvent N, Vekemans M
Am J Med Genet C Semin Med Genet 2016 Sep;172(3):296-306. Epub 2016 Jul 30 doi: 10.1002/ajmg.c.31511. PMID: 27474103

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