Brachydactyly-intellectual disability syndrome, Albright hereditary osteodystrophy type 3
2q37 deletion syndrome is inherited in an autosomal dominant manner
2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which one or more of 3 sub-bands, 2q37.1, 2q37.2, and 2q37.3, of the last band of one of the chromosome 2’s long arms are deleted.[1] The first report of this disorder was in 1989.[1]
^ abLeroy C.; E. Landais; S. Briault; A. David; O. Tassy; N. Gruchy; B. Delobel; M. J. Grégoire; B. Leheup; L. Taine; D. Lacombe; M.A. Delrue; A. Toutain; A. Paubel; F. Mugneret; C. Thauvin-Robinet; S. Arpin; C. Le Caignec; P. Jonveaux; M. Beri; N. Leporrier; J. Motte; C. Fiquet; O. Brichet; M. Mozelle-Nivoix; P. Sabouraud; N. Golovkine; N. Bednarek; D. Gaillard; M. Doco-Fenzy (Jun 2013). "The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients". European Journal of Human Genetics. 21 (6): 602–12. doi:10.1038/ejhg.2012.230. PMC 3658200. PMID 23073310.
and 16 Related for: 2q37 deletion syndrome information
2q37deletionsyndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which one or more of 3 sub-bands, 2q37.1, 2q37.2, and 2q37...
found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in...
Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent DeletionSyndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens...
2q37 monosomy is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2. Almost all people with this syndrome have some...
the deletion on to their children. Treatment is based on the signs and symptoms present in each person. 2q37deletionsyndrome "Chromosome 2q deletion -...
Association of Michigan (BAAM) pointed out that although Sue Rubin has 2q37deletionsyndrome, which causes handicaps like skeleton malformations and severe developmental...
has been reported. This gene is located on the long arm of chromosome 2 (2q37) and is involved in the regulation of inflammation and the Hedgehog gene...
Deletion of GPR35 gene may be responsible for brachydactyly mental retardation syndrome and is mutated in 2q37 monosomy and 2q37deletionsyndrome. In...
fibroblast growth factor receptor 1, fms-related tyrosine kinase-2 / Pfeiffer syndrome, and CD331, is a receptor tyrosine kinase whose ligands are specific members...
"Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR". Cytogenetics...
essential for glucocorticoid regulation of PER2 in vivo. Mice with a genomic deletion spanning this GRE expressed elevated leptin levels and were protected from...
gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this...
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