Physical findings in 21q22 deletion suggest critical region for 21q— phenotype in q22
✍ Scribed by Theodoropoulos, Demetrios S. ;Cowan, Janet M. ;Elias, Ellen R. ;Cole, Cynthia
- Book ID
- 101445649
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 331 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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A case of acute nonlymphocytic leukemia with homozygosity for the chromosome segment 8pter-4q22 is reported. A t(8;2 l)(q22;q22) translocation was associated with duplication of the derivative chromosome 8q-and absence of the normal chromosome 8. These rearrangements also yielded hemizygosity for 8q
## Abstract We describe two unrelated patients with cytogenetically visible deletions of 21q22.2‐q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward‐slanting palpebral fissures, depressed nasal bridge, small nose wi