U.S. flag

An official website of the United States government


Send to:

Choose Destination

Search results

Items: 2


Microcephaly, growth restriction, and increased sister chromatid exchange 2

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; 210900), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018). For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; 210900) [from OMIM]

MedGen UID:
Concept ID:
Disease or Syndrome

Increased susceptibility to spontaneous sister chromatid exchange

An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. [from HPO]

MedGen UID:
Concept ID:
Cell or Molecular Dysfunction

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...