Test prenatal no invasivo
teléfono +34 96 3905310

Cri-du-chat syndrome – 5p15.2 deletion

Cri-du-chat syndrome is a genetic disorder caused by the loss of a fragment of the p arm of chromosome 5 (region 5p15.2). Nearly 10% of people with this syndrome inherit the chromosomal anomaly from an unaffected parent.

The prevalence is estimated at 1 in 15,000-50,000 births. The condition is more common in women in a proportion of 4:3. The majority of individuals have a normal life expectancy.

Most frequent clinical findings in patients with Cri-du-chat syndrome – 5p15.2 deletion:

  • Sharp sounding cry similar to the mewing of a cat
  • Small head with small jaw, wide-set eyes, flat and broad nasal bridge, low or abnormally shaped ears, partial tissue or webbed fingers and toes
  • Low birth weight and slow growth
  • Problems feeding due to difficulty swallowing and sucking
  • Weak muscle tone
  • Intellectual deficit and behavioral problems
  • Slow or incomplete development of motor skills
  • Cognitive delays and problems with language

Additional information

Criduchat.org – International cry du chat

subir

Pin It on Pinterest