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Chromosome 13q trisomy

MedGen UID:
162780
•Concept ID:
C0795849
•
Disease or Syndrome
Synonyms: Duplication 13q; Partial duplication of the long arm of chromosome 13; Trisomy 13q
 
Monarch Initiative: MONDO:0022177
Orphanet: ORPHA262932

Definition

Duplication of the long arm of chromosome 13 with retarded development and craniofacial, neurological, and other abnormalities. [from MCA/MR]

Recent clinical studies

Etiology

Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population.
Fairbrother G, Johnson S, Musci TJ, Song K
Prenat Diagn 2013 Jun;33(6):580-3. Epub 2013 Mar 15 doi: 10.1002/pd.4092. PMID: 23494956

Diagnosis

First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.
Elidrissi Errahhali M, Elidrissi Errahhali M, Ramdani S, Lhousni S, Benajiba N, Rkain M, Babakhouya A, Elouali A, Ghanam A, Amrani R, Messaoudi S, Ayyad A, Oneib B, Mimouni A, Saadi H, Allaoui S, Ouarzane M, Guichet A, Charif M, Boulouiz R, Bellaoui M
Arch Pediatr 2024 Feb;31(2):112-116. Epub 2024 Jan 22 doi: 10.1016/j.arcped.2023.10.002. PMID: 38262863
External Quality Assessment for Detection of Fetal Trisomy 21, 18, and 13 by Massively Parallel Sequencing in Clinical Laboratories.
Zhang R, Zhang H, Li Y, Han Y, Xie J, Li J
J Mol Diagn 2016 Mar;18(2):244-52. Epub 2015 Dec 30 doi: 10.1016/j.jmoldx.2015.10.003. PMID: 26747585
Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.
Kaylor J, Alfaro M, Ishwar A, Sailey C, Sawyer J, Zarate YA
Cytogenet Genome Res 2014;144(2):104-8. Epub 2014 Nov 6 doi: 10.1159/000368649. PMID: 25377780
Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population.
Fairbrother G, Johnson S, Musci TJ, Song K
Prenat Diagn 2013 Jun;33(6):580-3. Epub 2013 Mar 15 doi: 10.1002/pd.4092. PMID: 23494956

Clinical prediction guides

External Quality Assessment for Detection of Fetal Trisomy 21, 18, and 13 by Massively Parallel Sequencing in Clinical Laboratories.
Zhang R, Zhang H, Li Y, Han Y, Xie J, Li J
J Mol Diagn 2016 Mar;18(2):244-52. Epub 2015 Dec 30 doi: 10.1016/j.jmoldx.2015.10.003. PMID: 26747585
Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population.
Fairbrother G, Johnson S, Musci TJ, Song K
Prenat Diagn 2013 Jun;33(6):580-3. Epub 2013 Mar 15 doi: 10.1002/pd.4092. PMID: 23494956

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

    • ACMG ACT, 2020
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 13: Positive Cell Free DNA Screen, 2020

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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