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Microduplication Xp11.22p11.23 syndrome

Disease definition

Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

ORPHA:217377

Classification level: Disorder
  • Synonym(s):
    • Dup(X)(p11.22p11.23)
    • Trisomy Xp11.22p11.23
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300801
  • UMLS: C2749022
  • MeSH: -
  • GARD: 12766
  • MedDRA: -

Summary

Epidemiology

To date, twelve patients have been described.

Clinical description

All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, 5th toe hypoplasia, and syndactyly, are common. A peculiar electroencephalographic (EEG) pattern characterized by rolandic-like spikes and/or continuous spike wave during slow sleep (CSWS) exists in childhood.

Etiology

The microduplication was identified by microarray-based comparative genomic hybridization (aCGH). Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination (NAHR) or Alu-mediated recombination.

Expert reviewer(s):  Dr Nicole MORICHON-DELVALLEZ - Last update: February 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

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.