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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]

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

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital chromosomal disease
      - Sex-linked hereditary disorder
        Fragile X syndrome
        Orofaciodigital syndrome
        Mohr syndrome
        Oral-facial-digital syndrome with short stature and brachymesophalangy
        Orofacial-digital syndrome III
        Orofacial-digital syndrome IV
        Orofaciodigital syndrome I
        Orofaciodigital syndrome IX
        Orofaciodigital syndrome type 6
        Orofaciodigital syndrome type 12
        Orofaciodigital syndrome type 13
        Orofaciodigital syndrome type 14
        Orofaciodigital syndrome V
        Orofaciodigital syndrome VIII
        Orofaciodigital syndrome X
        Orofaciodigital syndrome XI
        Sex chromosome disorder of sex development
        45,X/46,XY mixed gonadal dysgenesis
        48,XXXY syndrome
        49,XXXXY syndrome
        Freemartinism
        Klinefelter syndrome
        Mixed gonadal dysgenesis
        Tetragametic chimerism
        Turner syndrome
        Monosomy X
        Mosaic Turner syndrome
        Turner syndrome due to structural X chromosome anomalies
        XXYY syndrome

Professional guidelines

PubMed

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

Turner syndrome: diagnosis and management.

Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

See all (857)

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

See all (2)

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

See all (2)

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

See all (1)

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

See all (1)

MedGen

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Sex-linked hereditary disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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