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Ectro-amelia syndrome associated with an interstitial deletion of 7q
1Division of Genetics, Children's Mercy Hospital, Kansas City, Missouri 64108.
American Journal of Medical Genetics
|January 1, 1990
Insights
A rare interstitial deletion on chromosome 7q in a male infant caused severe limb abnormalities, facial anomalies, and heart defects. This case highlights the critical role of the 7q21.3-q31.3 region in development.
Area of Science:
- Human Genetics
- Developmental Biology
- Clinical Dysmorphology
Background:
- Interstitial deletions of chromosome 7q are uncommon genetic events.
- Specific chromosomal regions are crucial for normal embryonic development, particularly limb formation.
- Understanding genotype-phenotype correlations is vital for diagnosing and managing genetic disorders.
Abstract:
We describe a premature male infant with an interstitial deletion of 7q [46,XY,del(7) (pter----q21.3::q31.3----qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3----q31.3 region are reviewed with emphasis on limb anomalies.