Chromosome 2q37 deletion syndrome

Also Known As:

2q37 deletion syndrome; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-Mental Retardation syndrome; Chromosome 2, monosomy 2q37; Deletion 2q37; Monosomy 2q37

Networked: 11 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Monosomy: 435
        Chromosome Deletion: 104
        Chromosome 2q37 deletion syndrome: 11
Genetic Phenomena
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        1-3 Human Chromosomes
        Pair 2 Human Chromosomes
        Chromosome 2q37 deletion syndrome: 11

Related Diseases

1.	Patent Foramen Ovale
2.	Muscle Hypotonia (Hypotonia)
3.	Chromosome 2q37 deletion syndrome
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Pseudohypoparathyroidism

Experts

1.	Alaimo, Joseph T: 1 article (01/2019)
2.	Arosio, Maura: 1 article (01/2019)
3.	Bordogna, Paolo: 1 article (01/2019)
4.	Elli, Francesca Marta: 1 article (01/2019)
5.	Elsea, Sarah H: 1 article (01/2019)
6.	Le, Trang N: 1 article (01/2019)
7.	Madeo, Bruno: 1 article (01/2019)
8.	Maffini, Maria A: 1 article (01/2019)
9.	Mantovani, Giovanna: 1 article (01/2019)
10.	Pirelli, Arianna: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome 2q37 deletion syndrome:

1.	Histone Deacetylases (Histone Deacetylase)IBA 09/01/2012 - "Brachydactyly mental retardation syndrome (BDMR) is an autosomal dominant disorder, caused by haploinsufficiency of histone deacetylase 4 (HDAC4), also on chromosome 2q37. " 01/01/2023 - "Brachydactyly mental retardation syndrome (BDMR) or chromosome 2q37 deletion syndrome is a genetic disorder caused by 2q37 deletion or haploinsufficiency of histone deacetylase 4 (HDAC4). " 01/01/2019 - "The 2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the HDAC4 gene, which encodes the histone deacetylase 4 protein. "
2.	Proteins (Proteins, Gene)FDA Link 10/04/2022 - "Microarray-based comparative genomic hybridization revealed a 5.9 Mb deletion in the 2q37.2 and 2q37.3 regions, eliminating 60 protein-coding genes in one of her chromosomes 2 and allowing the diagnosis of 2q37 deletion syndrome in this patient. " 01/01/2019 - "The 2q37 deletion syndrome, also described in the literature as brachydactyly-mental retardation syndrome (MIM 600430), is caused by deletion or haploinsufficiency of the HDAC4 gene, which encodes the histone deacetylase 4 protein. "
3.	Growth Hormone (Somatotropin)IBA 01/01/2018 - "Brachydactyly mental retardation syndrome with growth hormone deficiency."
4.	Parathyroid Hormone (Parathormone)IBA 01/01/2015 - "Different from classical AHO syndrome, patients with 2q37 deletion syndrome lack renal parathyroid hormone resistance (pseudohypoparathyroidism) and soft tissue ossification. "
5.	Hormones (Hormone)IBA 01/01/2013 - "Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like phenotype without any hormone resistance. "
6.	Cyclic AMP (AMP, Cyclic)IBA 01/01/2013 - "PDE4D encodes a cyclic AMP regulator and places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by cognitive impairment and short distal extremities."
7.	5-phenylpent-4-enyl-1-hydroperoxideIBA 01/01/2019 - "Small subsets of PHP and PPHP patients without known molecular defects have been re-diagnosed as being affected by the brachydactyly-mental retardation syndrome (BDMR), also known as the AHO-like syndrome. "

Therapies and Procedures

1.	Physical Therapy Modalities (Physical Therapy Technique) 11/01/2023 - "This case report presents a 3-year-old female child diagnosed with 2q37 deletion syndrome and patent foramen ovale, and the improvement in hypotonia and gross motor delay after 1 year of physical therapy. "
2.	Ligation 12/01/2013 - "To diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome. "