tetrasomy 9p Chromosome 9

Also Known As:

Chromosome 9, tetrasomy 9p; Chromosome 9, tetrasomy 9p mosaicism; Mosaic tetrasomy 9p; Tetrasomy 9p; Tetrasomy, short arm of chromosome 9

Networked: 7 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Uniparental Disomy
2.	Isochromosomes
3.	Pilomatrixoma
4.	Trisomy (Trisomies)
5.	Klinefelter Syndrome (Klinefelter's Syndrome)

Experts

1.	Charalsawadi, Chariyawan: 1 article (01/2021)
2.	Jaruratanasirikul, Somchit: 1 article (01/2021)
3.	Jaruthamsophon, Kanoot: 1 article (01/2021)
4.	Limprasert, Pornprot: 1 article (01/2021)
5.	Nitiruangjaras, Anupong: 1 article (01/2021)
6.	Trongnit, Sasipong: 1 article (01/2021)
7.	Wirojanan, Juthamas: 1 article (01/2021)
8.	Browning, Michael: 1 article (10/2018)
9.	Gaillard, Erol A: 1 article (10/2018)
10.	Ions, Rhiannon: 1 article (10/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to tetrasomy 9p Chromosome 9:

1.	Antiviral Agents (Antivirals)IBA 10/22/2018 - "We argue that in the presence of the mosaic tetrasomy 9p, earlier antiviral therapy may have decreased the severity of BO, as this mutation is known to be associated with some degree of immune dysregulation. " 10/22/2018 - "However, in this case, with the presence of the mosaic tetrasomy 9p mutation, earlier antiviral therapy may have reduced such longer term complications, due to the immune dysregulatory nature of this mutation."
2.	beta CateninIBA 01/01/2021 - "Pilomatricoma has been reported in patients with chromosome 9 rearrangements, including 4 patients with tetrasomy 9p syndrome and one patient with partial trisomy 9. In addition to beta-catenin, the expression of bcl2 was observed in pilomatricoma. " 01/01/2021 - "Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; however, we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl2 proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient." 01/01/2021 - "No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome."
3.	Proto-Oncogene Proteins c-bcl-2 (Proto Oncogene Proteins c bcl 2)IBA 01/01/2021 - "Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; however, we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl2 proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient."
4.	Testosterone (Sustanon)FDA Link 01/01/2007 - "Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production."
5.	SteroidsIBA 10/22/2018 - "We present a case of persistent AdV B3 infection in a 14-month old boy with mosaic tetrasomy 9p, which persisted for 10 weeks, resulting in radiologically-confirmed BO, requiring cidofovir to control the persistent AdV B3 infection and standard therapy with pulsed steroids. "
6.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "To report an additional case of tetrasomy 9p syndrome with concurrent pilomatricoma and to examine whether abnormal protein expressions of the CTNNB1 and/or BCL2 genes were present. " 01/01/2021 - "No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome."
7.	GonadotropinsIBA 01/01/2007 - "Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production."
8.	Genetic Markers (Genetic Marker)IBA 01/01/2007 - "Fluorescence in situ hybridization analysis revealed that the marker chromosome was an isochromosome 9p, which resulted in tetrasomy 9p. "
9.	EnzymesIBA 06/01/1980 - "Tetrasomy 9p: confirmation by enzyme analysis."
10.	DNA (Deoxyribonucleic Acid)IBA 01/01/2023 - "She was referred for genetic counseling at 23 weeks of gestation, and repeat amniocentesis revealed a karyotype of 47,XX,+i (9) (p10)[1]/46,XX [16] with seven cells in one colony having tetrasomy 9p in cultured amniocytes, and in uncultured amniocytes, quantitative fluorescence polymerase chain reaction (QF-PCR) analysis excluded uniparental disomy (UPD) 9 and determined paternal origin of the extra i (9p), array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr 9p24.3p13.1 × 3.0 consistent with 50% mosaicism for tetrasomy 9p, and interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes showed 22.6% (12/53 cells) mosaicism for tetrasomy 9p. "

Therapies and Procedures

Therapeutics

10/22/2018 - "We argue that in the presence of the mosaic tetrasomy 9p, earlier antiviral therapy may have decreased the severity of BO, as this mutation is known to be associated with some degree of immune dysregulation. "
10/22/2018 - "However, in this case, with the presence of the mosaic tetrasomy 9p mutation, earlier antiviral therapy may have reduced such longer term complications, due to the immune dysregulatory nature of this mutation."
10/22/2018 - "The presence of the unusual mosaic tetrasomy 9p genotype in this case, despite standard cidofovir therapy for persistent or chronic adenovirus infection, may have impacted on the child's long-term clinical outcomes. "
10/22/2018 - "We present a case of persistent AdV B3 infection in a 14-month old boy with mosaic tetrasomy 9p, which persisted for 10 weeks, resulting in radiologically-confirmed BO, requiring cidofovir to control the persistent AdV B3 infection and standard therapy with pulsed steroids. "