A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype
β Scribed by Papoulidis, I.; Papageorgiou, E.; Siomou, E.; Oikonomidou, E.; Thomaidis, L.; Vetro, A.; Zuffardi, O.; Liehr, T.; Manolakos, E.; Vassilis, Papadopoulos
- Book ID
- 122299177
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 450 KB
- Volume
- 536
- Category
- Article
- ISSN
- 0378-1119
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## Abstract We describe two unrelated patients with cytogenetically visible deletions of 21q22.2βq22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downwardβslanting palpebral fissures, depressed nasal bridge, small nose wi
We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirrorsymmetric appearance with the mirror axis at the breakpo