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Sex-linked hereditary disorder

MedGen UID:
183658
Concept ID:
C0949683
Disease or Syndrome
Synonyms: Chromosome Disorder, Sex; Chromosome Disorders, Sex; Disorders, Sex Chromosome; Disorders, Sex Chromosome Abnormality; Sex Chromosome Abnormality Disorders; Sex Chromosome Disorder; Sex Chromosome Disorders
SNOMED CT: Sex-linked hereditary disorder (82852009)

Definition

Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment). [from MeSH]

Professional guidelines

PubMed

Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V
Gac Med Mex 2020;156(1):60-66. doi: 10.24875/GMM.19005275. PMID: 32026885
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Recent clinical studies

Etiology

Masood SA, Kazmouz S, Heydemann P, Li H, Kenny D
Pediatr Cardiol 2015 Oct;36(7):1489-94. Epub 2015 May 16 doi: 10.1007/s00246-015-1191-8. PMID: 25981564
Briët E, Bertina RM, van Tilburg NH, Veltkamp JJ
N Engl J Med 1982 Apr 1;306(13):788-90. doi: 10.1056/NEJM198204013061306. PMID: 7062952

Diagnosis

Masood SA, Kazmouz S, Heydemann P, Li H, Kenny D
Pediatr Cardiol 2015 Oct;36(7):1489-94. Epub 2015 May 16 doi: 10.1007/s00246-015-1191-8. PMID: 25981564
SERR DM, MARGOLIS E
Am J Obstet Gynecol 1964 Jan 15;88:230-2. doi: 10.1016/0002-9378(64)90260-1. PMID: 14104786

Prognosis

Masood SA, Kazmouz S, Heydemann P, Li H, Kenny D
Pediatr Cardiol 2015 Oct;36(7):1489-94. Epub 2015 May 16 doi: 10.1007/s00246-015-1191-8. PMID: 25981564

Clinical prediction guides

Masood SA, Kazmouz S, Heydemann P, Li H, Kenny D
Pediatr Cardiol 2015 Oct;36(7):1489-94. Epub 2015 May 16 doi: 10.1007/s00246-015-1191-8. PMID: 25981564

Supplemental Content

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