Sibs lacking characteristic features of duplication of distal 17q
- PMID: 2664178
- PMCID: PMC1015653
- DOI: 10.1136/jmg.26.7.465
Sibs lacking characteristic features of duplication of distal 17q
Abstract
Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.
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