2q37 monosomy

2q37 monosomy is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2.[1][2]

2q37 monosomy
Deleted Region in Chromosome 2
SpecialtyMedical genetics

Signs and symptoms

Almost all people with this syndrome have some degree of intellectual disability and facial dysmorphism (round face, deep-set eyes, thin upper lip). Behavioural problems are common. Brachymetaphalangism (metacarpal or metatarsal shortening) is reported in ~50% of cases overall, but is typically not evident below the age of 2 years. There is striking phenotypic variability, and the size and extent of the deleted region cannot be used as accurate predictors of prognosis. Some patients have additional problems such as congenital heart disease and seizures.

Genetics

The minimal deletion causing this syndrome has been defined as a 3 megabase region that contains the genes GPR35, GPC1 and STK25. Almost all deletions are found to be terminal deletions at the end of chromosome 2. There is a high frequency of de novo deletions, but multiple cases within a single family are also observed. Equal proportions of maternally and paternally derived rearrangements were seen in Aldred's series. No common breakpoints for the deletion were identified indicating that the 2q37 rearrangement is unlikely to be mediated by non-homologous recombination and low-copy repeats.[1] In a study of 20 patients,[1] no clear relationship was found between clinical features and the size or position of the monosomic region.

Diagnosis

See also

References
  1. Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC (2004). "Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes". J Med Genet. 41 (6): 433–9. doi:10.1136/jmg.2003.017202. PMC 1735790. PMID 15173228.
  2. Shrimpton AE, Braddock BR, Thomson LL, Stein CK, Hoo JJ (2004). "Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype". Clin Genet. 66 (6): 537–44. doi:10.1111/j.1399-0004.2004.00363.x. PMID 15521982. S2CID 42975740.
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