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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)

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

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
Prevalence of acne vulgaris in patients with Down syndrome.
Bagatin E, Kamamoto CS, Guadanhim LR, Sanudo A, Dias MC, Barraviera IM, Colombo FC
Dermatology 2010;220(4):333-9. Epub 2010 Mar 23 doi: 10.1159/000284680. PMID: 20332597

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

Clinical prediction guides

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

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