Chromosome 18 deletion syndrome

Deletion of chromosome 18q results in highly variable phenotypes including INTELLECTUAL DISABILITY; HYPOTONIA; HEARING LOSS, short stature, and foot deformities. Tapered digits and wide mouth may also occur. Inheritance of this deletion is autosomal dominant. OMIM: 601808

Also Known As:

Networked: 15 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pelizaeus-Merzbacher Disease
2.	Ring Chromosomes (Ring Chromosome)
3.	Monosomy
4.	Hypothyroidism
5.	Hyperthyroidism

Experts

1.	Bhowmick, Samar K: 1 article (05/2021)
2.	Kaulfers, Anne Marie D: 1 article (05/2021)
3.	Lim, Whei Ying: 1 article (05/2021)
4.	Chen, Meiping: 1 article (01/2021)
5.	Chen, Shi: 1 article (01/2021)
6.	Duan, Lian: 1 article (01/2021)
7.	Liu, Shanshan: 1 article (01/2021)
8.	Pan, Hui: 1 article (01/2021)
9.	Wang, Linjie: 1 article (01/2021)
10.	Yang, Hongbo: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome 18 deletion syndrome:

1.	Growth Hormone (Somatotropin)IBA 11/01/2019 - "Numerous reports on patients with 18q- syndrome show growth hormone treatment has significant therapeutic benefits, not only in terms of final body height but also cognitive functions and psychosocial development. " 09/05/1997 - "Growth hormone insufficiency is a common cause of growth failure in children with the 18q- syndrome. " 03/03/1997 - "We evaluated growth hormone (GH) sufficiency in 5 18q- syndrome patients, 3 of whom had growth failure (< 3% weight and height); the remaining 2 had normal growth parameters. " 05/01/2021 - "Although growth hormone deficiency and hypothyroidism are common in patients with 18q- syndrome, the occurrence of hyperthyroidism due to Graves' disease with the coexistence of Hashimoto's hypothyroidism is rare. " 01/01/2021 - "Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited. "
2.	Human Growth Hormone (Saizen)FDA LinkGeneric 01/01/2021 - "Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review." 11/01/2019 - "Here we describe the case of a 10-year-old girl with 18q- syndrome treated with recombinant human growth hormone from the age of 2. This is the first report of such a patient in Poland. " 01/01/2021 - "Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited. "
3.	Myelin Basic ProteinIBA 07/25/1997 - "Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency." 03/01/1996 - "[18q syndrome with deficiency of myelin basic protein (MBP)]." 06/01/1993 - "The synthesis of a particular myelin protein can be defective, as occurs for proteolipid protein in Pelizaeus-Merzbacher disease and for myelin basic protein in the 18q- syndrome. "
4.	DNA (Deoxyribonucleic Acid)IBA 07/01/1993 - "The small ring chromosome 21 [r(21)], present in only 52% of the patient's blood lymphocytes, did not appear to be associated with the abnormal phenotype since all 13 chromosome 21 markers that were examined in genomic DNA were present in 2 copies, and the phenotype of the patient was consistent with the 18q- syndrome. " 01/01/1999 - "An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA."
5.	Sumatriptan (Imigran)FDA LinkGeneric 12/01/2009 - "This is the first case of 18q- syndrome combined with cyclic vomiting syndrome successfully treated with sumatriptan. " 12/01/2009 - "Successful treatment with sumatriptan in a case with cyclic vomiting syndrome combined with 18q- syndrome." 12/01/2009 - "This report may allow us to consider sumatriptan use in patients suffering from misery attack of cyclic vomiting syndrome combined with chromosomal abnormality of 18q- syndrome."
6.	SerpinsIBA 01/01/1999 - "An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA."
7.	Messenger RNA (mRNA)IBA 06/01/1999 - "In an attempt to generalize this result to a monosomy, we examined mRNA isolated from lymphoblastoid cell lines derived from patients with 18q- syndrome, a deletion syndrome involving loss of the distal long arm of chromosome 18. "
8.	Proteins (Proteins, Gene)FDA Link 06/01/1993 - "The synthesis of a particular myelin protein can be defective, as occurs for proteolipid protein in Pelizaeus-Merzbacher disease and for myelin basic protein in the 18q- syndrome. "
9.	Myelin ProteinsIBA 06/01/1993 - "The synthesis of a particular myelin protein can be defective, as occurs for proteolipid protein in Pelizaeus-Merzbacher disease and for myelin basic protein in the 18q- syndrome. "
10.	Genetic Markers (Genetic Marker)IBA 03/01/2008 - "Two children are described, one with 18q- syndrome and another with supernumary marker chromosome 15, both presenting with juvenile idiopathic arthritis-type disease, aggressive progression and moderate response to inflammatory, corticosteroid and immunosuppressive treatment."

Therapies and Procedures

1.	Contraception (Birth Control) 01/01/2006 - "Identification of affected females with the 18q- syndrome should include genetic counseling of possible direct transmission and consideration of birth control or prenatal genetic testing at reproductive age."