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3q29 microduplication syndrome

Disease definition

3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.

ORPHA:251038

Classification level: Disorder
  • Synonym(s):
    • Trisomy 3q29
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • ICD-11: LD41.20
  • OMIM: 611936
  • UMLS: C2749873
  • MeSH: C567626
  • GARD: 10360
  • MedDRA: -

Summary

Epidemiology

They have been reported in fewer than 30 patients.

Clinical description

The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly.

Etiology

Among duplications, only some appear to be the reciprocal duplication products of 3q29 microdeletion (see this term) and the others flank, span, or partially overlap the common deletion region. These results suggest that other mechanisms in addition to non-allelic homologous recombination (NAHR) mediate rearrangements of 3q29. These microduplications appear de novo or are inherited from mildly affected or completely normal parents. The clinical significance of reciprocal 3q29 microduplication is still unclear.

Expert reviewer(s):  Dr Nicole MORICHON-DELVALLEZ - Last update: March 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf) Polski (2011, pdf)

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

Newborn screening

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.