Orphanet: 1q21.1 microduplication syndrome
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1q21.1 microduplication syndrome

Disease definition

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

ORPHA:250994

Classification level: Disorder
  • Synonym(s):
    • Dup(1)(q21.1)
    • Trisomy 1q21.1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: 612475
  • UMLS: C2675891
  • MeSH: -
  • GARD: 10591
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

General public

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.