Autosomal chromosomal disorder

MedGen UID:: 199033
•Concept ID:: C0969687
•: Congenital Abnormality; Disease or Syndrome

Synonyms:	Autosomal Chromosome Disorder; Autosomal Chromosome Disorders; Chromosome Disorder, Autosomal; Chromosome Disorders, Autosomal
SNOMED CT:	Autosomal chromosomal disorder (403759001)

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	GATA1

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital chromosomal disease
- CROGVAutosomal anomaly
  - CROGVAutosomal monosomy
    - CROGVRing chromosome
- CROGVAutosomal chromosomal disorder
  - CROGVChromosome 13q trisomy
  - CROGVChromosome 3, trisomy 3p
  - CROGVChromosome 5, trisomy 5p
  - CROGVComplete trisomy 13 syndrome
  - CROGVComplete trisomy 20 syndrome
  - CROGVComplete trisomy 21 syndrome
  - CROGVTrisomy 8
  - CROGVTrisomy 18
- CROGVRing chromosome anomaly
- CROGVSex-linked hereditary disorder

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Fetal anomaly
  - Congenital chromosomal disease
    - Autosomal chromosomal disorder

Recent clinical studies

Diagnosis

Prenatal echocardiography in Trisomy 18 - the key to diagnosis and further management in the second half of pregnancy.

Nowakowska A, Sylwestrzak O, Strzelecka I, Oszukowski P, Responek-Liberska M, Zalinska A
Ginekol Pol 2023;94(5):366-373. Epub 2023 Apr 18 doi: 10.5603/GP.a2023.0035. PMID: 37070966

Trisomy 18-when the diagnosis is compatible with life.

Silva C, Ferreira MC, Saraiva J, Cancelinha C
Eur J Pediatr 2022 Jul;181(7):2809-2819. Epub 2022 May 6 doi: 10.1007/s00431-022-04477-w. PMID: 35522316

Assessment of salivary total antioxidant levels and oral health status in children with Down syndrome.

Subramaniam P, Girish Babu K, Mohan Das L
Spec Care Dentist 2014 Jul-Aug;34(4):193-200. Epub 2013 Nov 4 doi: 10.1111/scd.12054. PMID: 24188359

De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome.

Catalán JA, Rodríguez FA, Yubero MJ, Palisson F, Gana MJ, Krämer SM, Repetto GM
Int J Dermatol 2012 Sep;51(9):1078-81. doi: 10.1111/j.1365-4632.2011.05428.x. PMID: 22909362

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Autosomal chromosomal disorder

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Recent clinical studies

Diagnosis

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