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Chromosome 9 Abnormality

MedGen UID:
1793177
•Concept ID:
C5556736
•
Cell or Molecular Dysfunction
Synonyms: Aberrant Chromosome 9; Chromosome 9 Aberration

Definition

A cytogenetic abnormality that refers to any structural irregularity in chromosome 9. [from NCI]

Professional guidelines

PubMed

Genetic counseling of mosaic and non-mosaic tetrasomy 9p at prenatal diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2024 Sep;63(5):633-636. doi: 10.1016/j.tjog.2024.07.004. PMID: 39266143
Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1.
Zhou Y, Quan Y, Wu Y, Zhang Y
J Int Med Res 2022 Sep;50(9):3000605221121955. doi: 10.1177/03000605221121955. PMID: 36113068Free PMC Article
Diagnosis and Treatment of Chronic Myeloid Leukemia in 2015.
Thompson PA, Kantarjian HM, Cortes JE
Mayo Clin Proc 2015 Oct;90(10):1440-54. doi: 10.1016/j.mayocp.2015.08.010. PMID: 26434969Free PMC Article

Recent clinical studies

Etiology

Fatal atlantoaxial dislocation due to an odontoid synchondrosis fracture in a child with chromosome 9 abnormality: A case report.
Yamaguchi R, Makino Y, Inokuchi G, Hattori S, Chiba F, Torimitsu S, Saito N, Kishimoto T, Iwase H
J Forensic Leg Med 2019 Feb;61:92-96. Epub 2018 Nov 29 doi: 10.1016/j.jflm.2018.11.011. PMID: 30528850

Diagnosis

The radiological appearances of tuberous sclerosis.
Evans JC, Curtis J
Br J Radiol 2000 Jan;73(865):91-8. doi: 10.1259/bjr.73.865.10721329. PMID: 10721329

Prognosis

Fatal atlantoaxial dislocation due to an odontoid synchondrosis fracture in a child with chromosome 9 abnormality: A case report.
Yamaguchi R, Makino Y, Inokuchi G, Hattori S, Chiba F, Torimitsu S, Saito N, Kishimoto T, Iwase H
J Forensic Leg Med 2019 Feb;61:92-96. Epub 2018 Nov 29 doi: 10.1016/j.jflm.2018.11.011. PMID: 30528850
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
Lindgren V, Rosinsky B, Chin J, Berry-Kravis E
Am J Med Genet 1994 Jan 1;49(1):67-73. doi: 10.1002/ajmg.1320490112. PMID: 8172253

Clinical prediction guides

Fatal atlantoaxial dislocation due to an odontoid synchondrosis fracture in a child with chromosome 9 abnormality: A case report.
Yamaguchi R, Makino Y, Inokuchi G, Hattori S, Chiba F, Torimitsu S, Saito N, Kishimoto T, Iwase H
J Forensic Leg Med 2019 Feb;61:92-96. Epub 2018 Nov 29 doi: 10.1016/j.jflm.2018.11.011. PMID: 30528850

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