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Distal monosomy 10p

MedGen UID:
321954
•Concept ID:
C1832431
•
Disease or Syndrome
Synonyms: DiGeorge Syndrome 2; DiGeorge syndrome/velocardiofacial syndrome complex 2; Velocardiofacial Syndrome 2
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0011055
OMIM®: 601362
Orphanet: ORPHA1580

Definition

Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal monosomy 10p
Follow this link to review classifications for Distal monosomy 10p in Orphanet.

Recent clinical studies

Diagnosis

Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.
Battaglia A, Novelli A, Ceccarini C, Bernardini L, Carey JC
Am J Med Genet A 2007 Jan 15;143A(2):184-8. doi: 10.1002/ajmg.a.31590. PMID: 17163546

Therapy

Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome.
Chao PH, Chao MC, Hwang KP, Chung MY
Acta Paediatr 2009 Jan;98(1):195-8. Epub 2008 Sep 14 doi: 10.1111/j.1651-2227.2008.01037.x. PMID: 18795911

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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