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Xp22.13p22.2 duplication syndrome

MedGen UID:
1684472
•Concept ID:
C5190686
•
Disease or Syndrome
Synonyms: Dup(X)(p22); dup(X)(p22); dup(X)(p22.13p22.2); Dup(X)(p22.13p22.2); Duplication Xp22
SNOMED CT: Xp22.13p22.2 duplication syndrome (782877002)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017284
Orphanet: ORPHA284180

Definition

A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVXp22.13p22.2 duplication syndrome

Recent clinical studies

Diagnosis

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M
Hum Genet 2002 Sep;111(3):235-41. Epub 2002 Aug 1 doi: 10.1007/s00439-002-0791-6. PMID: 12215835

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