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1q44 microdeletion syndrome

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Alternate names

Del(1)(q44); Monosomy 1q44; Chromosome 1q44 microdeletion syndrome

Definition

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Epidemiology

It has been reported in four unrelated patients.

Signs and symptoms

The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients.

Clinical presntation

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

  • Agenesis of corpus callosum
  • Bilateral tonic-clonic seizure(Grand mal seizures)
  • Delayed speech and language development(Deficiency of speech development)
  • Exaggerated cupid's bow(Cupid bow upper lip)
  • Global developmental delay
  • Intellectual disability, severe(Early and severe mental retardation)
  • Muscular hypotonia(Low or weak muscle tone)
  • Thin vermilion border(Decreased volume of lip)

30%-79% of people have these symptoms

5%-29% of people have these symptoms

  • Biparietal narrowing
  • Frontal bossing
  • High forehead
  • High palate(Elevated palate)
  • Horseshoe kidney(Horseshoe kidneys)
  • Hydrocephalus(Too much cerebrospinal fluid in the brain)
  • Intestinal malrotation
  • Optic disc hypoplasia
  • Preauricular skin tag
  • Prominent metopic ridge
  • Scoliosis
  • Synophrys(Monobrow)
  • Vesicoureteral reflux

Diagnosis

This microdeletion was identified by array CGH (comparative genomic hybridization).

Treatment

NIH genetic and rare disease info

1q44 microdeletion syndrome is a rare disease.

External links

Wikipedia
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