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Chromosome 8, monosomy 8p

MedGen UID:
167071
•Concept ID:
C0795824
•
Disease or Syndrome
Synonyms: Deletion 8p; Monosomy 8p

Definition

Deletion of the short arm of chromosome 8 postnatal growth retardation, microcephaly, subnormal mentality, epicanthal folds, malformed ears, brevicollis, widely spread nipples, heart defects, and other abnormalities. Congenital spherocytic anemia may occur. [from MCA/MR]

Recent clinical studies

Etiology

Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2021 Jul;60(4):775-777. doi: 10.1016/j.tjog.2021.05.034. PMID: 34247824
Deletion of 8p is an independent prognostic parameter in prostate cancer.
Kluth M, Amschler NN, Galal R, Möller-Koop C, Barrow P, Tsourlakis MC, Jacobsen F, Hinsch A, Wittmer C, Steurer S, Krech T, Büscheck F, Clauditz TS, Beyer B, Wilczak W, Graefen M, Huland H, Minner S, Schlomm T, Sauter G, Simon R
Oncotarget 2017 Jan 3;8(1):379-392. doi: 10.18632/oncotarget.13425. PMID: 27880722Free PMC Article
Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M
Am J Med Genet A 2012 Jul;158A(7):1713-8. Epub 2012 May 25 doi: 10.1002/ajmg.a.35400. PMID: 22639464

Diagnosis

Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2021 Jul;60(4):775-777. doi: 10.1016/j.tjog.2021.05.034. PMID: 34247824
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
Papadopoulou Z, Papoulidis I, Sifakis S, Markopoulos G, Vetro A, Vlaikou AM, Ziegler M, Liehr T, Thomaidis L, Zuffardi O, Syrrou M, George K, Manolakos E
Mol Med Rep 2017 Dec;16(6):8808-8818. Epub 2017 Oct 10 doi: 10.3892/mmr.2017.7760. PMID: 29039589Free PMC Article
Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.
Tos T, Vurucu S, Karkucak M, Kozan S, Gul D, Akin R
Genet Couns 2013;24(3):259-64. PMID: 24341139
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P
Am J Med Genet A 2013 Apr;161A(4):822-8. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35699. PMID: 23495222
Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M
Am J Med Genet A 2012 Jul;158A(7):1713-8. Epub 2012 May 25 doi: 10.1002/ajmg.a.35400. PMID: 22639464

Prognosis

8p deletions in renal cell carcinoma are associated with unfavorable tumor features and poor overall survival.
Eichenauer T, Bannenberg DC, Kluth M, Wittmer C, Büscheck F, Möller K, Dum D, Fraune C, Hube-Magg C, Möller-Koop C, Dahlem R, Fisch M, Rink M, Riechardt S, Tsourlakis MC, Bernreuther C, Minner S, Simon R, Sauter G, Wilczak W, Clauditz TS
Urol Oncol 2020 Feb;38(2):43.e13-43.e20. Epub 2019 Nov 19 doi: 10.1016/j.urolonc.2019.09.024. PMID: 31757738
Deletion of 8p is an independent prognostic parameter in prostate cancer.
Kluth M, Amschler NN, Galal R, Möller-Koop C, Barrow P, Tsourlakis MC, Jacobsen F, Hinsch A, Wittmer C, Steurer S, Krech T, Büscheck F, Clauditz TS, Beyer B, Wilczak W, Graefen M, Huland H, Minner S, Schlomm T, Sauter G, Simon R
Oncotarget 2017 Jan 3;8(1):379-392. doi: 10.18632/oncotarget.13425. PMID: 27880722Free PMC Article
Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M
Am J Med Genet A 2012 Jul;158A(7):1713-8. Epub 2012 May 25 doi: 10.1002/ajmg.a.35400. PMID: 22639464

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