Chromosome 9p Deletion Syndrome

An autosomal dominant abnormality (partial deletion) of chromosome 9 that is characterized by TRIGONOCEPHALY, flattened occiput, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, HYPERTELORISM; MUSCLE HYPERTONIA and INTELLECTUAL DISABILITY. PATENT DUCTUS ARTERIOSUS; VENTRICULAR SEPTAL DEFECTS and HERNIAS may also be present. OMIM: 158170

Also Known As:

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Chromosomal Instability (Chromosome Stability)
2.	Hypothyroidism
3.	Craniosynostoses (Craniosynostosis)
4.	Hunter-McAlpine syndrome

Experts

1.	Chen, Lei: 1 article (08/2020)
2.	He, Jiachen: 1 article (08/2020)
3.	Hu, Hanguang: 1 article (08/2020)
4.	Hu, Jinlin: 1 article (08/2020)
5.	Li, Da: 1 article (08/2020)
6.	Li, Jingjing: 1 article (08/2020)
7.	Luo, Cong: 1 article (08/2020)
8.	Ma, Yutong: 1 article (08/2020)
9.	Mou, Haibo: 1 article (08/2020)
10.	Shao, Yang: 1 article (08/2020)

Drugs and Biologics

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

1.	Pyridinolcarbamate (P23)IBA 01/01/2011 - "Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism." 01/01/1998 - "The INSL4 gene maps close to WI-5527 at 9p24.1-->p23.3 clustered with two relaxin genes and outside the critical region for the monosomy 9p syndrome."
2.	Protein Tyrosine PhosphatasesIBA 01/01/2015 - "An association of this characteristic with the monosomy 9p syndrome is well established and the receptor-type protein tyrosine phosphatase gene (PTPRD), located in the 9p24.1p23 region and encoding a major component of the excitatory and inhibitory synaptic organization, is considered as a good candidate to be responsible for this form of craniosynostosis. "
3.	RelaxinIBA 01/01/1998 - "The INSL4 gene maps close to WI-5527 at 9p24.1-->p23.3 clustered with two relaxin genes and outside the critical region for the monosomy 9p syndrome."
4.	Anesthetics (Anesthetic Agents)IBA 01/01/2007 - "Anesthetic management in a child with deletion 9p syndrome."
5.	Adenosine Monophosphate (AMP)IBA 08/01/2020 - "We found that patients with 19q amplification (19q Amp) and 9p deletion (9p Del) had poor PFS outcome (19q Amp, HR = 15.4; 95% CI, 2.7-88.5; P < .001; 9p Del; HR = 4.88 × 109 ; 95% CI, 0-Inf; P < .001), while those with chromosomal instability derived PFS benefit (HR = 0.24; 95% CI, 0.05-1.17; P = .057). "
6.	T-18 (T 18)IBA 09/01/2009 - "In these cases, five patients had de novo deletions (1p deletion was found in 2 cases; 3q deletion, 9p and 9q deletions were found in 1 case each) and four patients had unbalanced rearrangements [der(5)t(5;15)(pter;qter)pat in 2 patients who were siblings, rec(10)dup(10p)inv(10)(p13q26)mat in 1 patient and der(18)t(18;22)(qter;qter) de novo in 1 patient]. "