Interstitial deletion (2)(p13p15)
✍ Scribed by Daniela Duca; Doina Ioan; P. Meilă; M. Ionescu-Cerna; Ligia Simionescu; C. Maximilian
- Publisher
- Springer
- Year
- 1981
- Tongue
- English
- Weight
- 759 KB
- Volume
- 57
- Category
- Article
- ISSN
- 0340-6717
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📜 SIMILAR VOLUMES
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.
An unbalanced 46,XY,der(2)del(2)(p11.2p13) inv(2)(p11.2q13) karyotype was found in a phenotypically abnormal child with a de novo interstitial deletion of band 2p12 associated with an inv(2)(p11.2q13) inherited from the father. The inv(2) is generally considered a benign familial variant without sig