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Chromosomal mosaicism in Down's syndrome: a diagnostic challenge
Developmental Medicine and Child Neurology
|October 1, 1977
Summary
Mosaicism for trisomy 21 leads to unpredictable Down syndrome features. Even with normal blood cell chromosomes, skin cells can show high trisomy 21 levels, impacting phenotype.
Area of Science:
- Genetics
- Human Biology
- Developmental Biology
Background:
- Mosaicism for trisomy 21 (Down syndrome) presents diagnostic challenges.
- Phenotype-karyotype correlations in Down syndrome mosaicism are often unpredictable.
- Standard cytogenetic analysis may miss low-level mosaicism.