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Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time.

The genital tract is usually normal in females except for a report of a bicornuate uterus.

Diagnosis is based on the distinctive cry and accompanying physical problems.

These common symptoms are quite easily observed in infants.

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− syndrome (pronounced "Five P Minus") or Lejeune’s syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5.

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About 1/3 of children lose the cry by age of 2 years.

Other symptoms of cri du chat syndrome may include: Other common findings include hypotonia, microcephaly, growth retardation, a round face with full cheeks, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, flat nasal bridge, down-turned mouth, micrognathia, low-set ears, short fingers, single palmar creases, and cardiac defects (e.g., ventricular septal defect [VSD], atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot). It has also been observed that people with the condition have difficulties communicating.

Fewer than 10% of cases have other rare cytogenetic aberrations (e.g., interstitial deletions, mosaicisms, rings and de novo translocations).

The deleted chromosome 5 is paternal in origin in about 80% of de novo cases.