Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > constitutional chromosomal anomalies

constitutional chromosomal anomalies

Tuesday 20 April 2004

Approximately 7.5% of all conceptions have a chromosomal abnormality, most of which are not compatible with survival or live birth. (4% in non-macerated, 9% in macerated)

Chromosome abnormalities are identified in 50% of early spontaneous abortuses and in 5% of stillbirths and infants who die in the immediate postnatal period. Even in live-born infants, the frequency is approximately 0.5% to 1.0%.

Types

- constitutional chromosomal numerical anomalies

- constitutional chromosomal structural anomalies (chromosomal rearrangements)

Consequences

- maldevelopment

  • malformative syndromes

- tumors

See also

- Chromosomal anomalies