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3q26q27 microdeletion syndrome

MedGen UID:
1668723
Concept ID:
C4755255
Disease or Syndrome
Synonyms: 3q26-q27microdeletion syndrome; Del(3)(q26q27); Monosomy 3q26-q27; monosomy 3q26-q27; Monosomy 3q26q27; monosomy 3q26q27
SNOMED CT: Monosomy 3q26q27 (778000002); 3q26q27 microdeletion syndrome (778000002); Monosomy 3q26-q27 (778000002)
 
Monarch Initiative: MONDO:0018156
Orphanet: ORPHA356947

Definition

A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV3q26q27 microdeletion syndrome

Recent clinical studies

Prognosis

Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T
Hum Genet 2004 Jul;115(2):139-48. Epub 2004 May 27 doi: 10.1007/s00439-004-1134-6. PMID: 15168106Free PMC Article

Clinical prediction guides

Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, Jackson M, Wang TJ, Ireland M, Burn J, Krantz ID, Carr P, Strachan T
Hum Genet 2004 Jul;115(2):139-48. Epub 2004 May 27 doi: 10.1007/s00439-004-1134-6. PMID: 15168106Free PMC Article

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