We report on a 2-year-old child with psychomotor retardation, facial and urogenital anomalies. His chromosome constitution was 4 6 m , de1(6)(q13q15). This case further contributes to the karyotype-phenotype correlation of proximal deletion 6q syndromes.
Rare case of de novo interstitial deletion 2q13q21: Clinical, cytogenetic, and molecular studies
✍ Scribed by Eggermann, Katja; Dufke, Andreas; Enders, Herbert; Kaiser, Peter; St�tter, Mechthild; Eggerman, Thomas
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 11 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000515)92:2<153::aid-ajmg14>3.0.co;2-q
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