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Partial deletion of the short arm of chromosome 1

MedGen UID:
208633
Concept ID:
C0795796
Disease or Syndrome
Synonyms: Chromosome 1, monosomy 1p; Deletion 1p; Monosomy 1p
SNOMED CT: 1p partial monosomy (36369001); Partial deletion of the short arm of chromosome 1 (36369001)
 
Monarch Initiative: MONDO:0016883
Orphanet: ORPHA261857

Definition

Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [from MONDO]

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PubMed

Thein A, Charles A, Davies T, Newbury-Ecob R, Soothill P
BJOG 2001 Jun;108(6):642-8. doi: 10.1111/j.1471-0528.2001.00139.x. PMID: 11426901

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