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1q24q25 microdeletion syndrome

MedGen UID:
920857
•Concept ID:
CN252652
•
Disease or Syndrome

Recent clinical studies

Diagnosis

1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.
Lefroy H, Fox O, Javaid MK, Makaya T, Shears DJ
Am J Med Genet A 2018 Sep;176(9):2004-2008. Epub 2018 Aug 6 doi: 10.1002/ajmg.a.40426. PMID: 30079626

Prognosis

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.
Ashraf T, Collinson MN, Fairhurst J, Wang R, Wilson LC, Foulds N
Am J Med Genet A 2015 Dec;167A(12):3153-60. Epub 2015 Sep 3 doi: 10.1002/ajmg.a.37336. PMID: 26333682

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    Related information

    • ClinVar
      Related medical variations
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      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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