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Sex-linked hereditary disorder

MedGen UID:
183658
•Concept ID:
C0949683
•
Disease or Syndrome
Synonym: Sex-linked disease
SNOMED CT: Sex-linked hereditary disorder (82852009)
 
Monarch Initiative: MONDO:0020606

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

Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group, Backeljauw PF
Eur J Endocrinol 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. PMID: 38748847
Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V
Gac Med Mex 2020;156(1):60-66. doi: 10.24875/GMM.19005275. PMID: 32026885
Turner syndrome: mechanisms and management.
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

Recent clinical studies

Etiology

Under-recognition of Low Blood Pressure Readings in Patients with Duchenne Muscular Dystrophy.
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
Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty.
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

Under-recognition of Low Blood Pressure Readings in Patients with Duchenne Muscular Dystrophy.
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
DIAGNOSIS OF FETAL SEX IN A SEX-LINKED HEREDITARY DISORDER.
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

Under-recognition of Low Blood Pressure Readings in Patients with Duchenne Muscular Dystrophy.
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

Under-recognition of Low Blood Pressure Readings in Patients with Duchenne Muscular Dystrophy.
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

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