Microduplication Xp11.22-p11.23 syndrome

Alternate names

Chromosome Xp11.23-p11.22 duplication syndrome ; Trisomy Xp11.22-p11.23; Dup(X)(p11.22p11.23); Microduplication Xp11.22p11.23 syndrome; Trisomy Xp11.22p11.23

Definition

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

Epidemiology

To date, twelve patients have been described.

Cause

• 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.

Signs and symptoms

• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Delayed speech and language development(Deficiency of speech development)
• Intellectual disability(Mental deficiency)

30%-79% of people have these symptoms

• EEG with centrotemporal focal spike waves
• Hoarse voice(Hoarseness)
• Nasal speech(Nasal voice)
• Obesity(Having too much body fat)
• Pes cavus(High-arched foot)
• Pes planus(Flat feet)
• Precocious puberty(Early onset of puberty)
• Seizure
• Toe syndactyly(Fused toes)

5%-29% of people have these symptoms

• Autism

NIH genetic and rare disease info

• NIH info on Microduplication Xp11.22-p11.23 syndrome

Microduplication Xp11.22-p11.23 syndrome is a rare disease.