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Tandem duplication (5q13→22) in a mentally deficient girl

✍ Scribed by E. Kessel; R. A. Pfeiffer


Publisher
Springer
Year
1979
Tongue
English
Weight
467 KB
Volume
52
Category
Article
ISSN
0340-6717

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✦ Synopsis


A tandem duplication of 5q13 to 5q22, visualized using GTG- and RBA-banding, was found in a mentally defective girl with craniofacial dysmorphy.


📜 SIMILAR VOLUMES


An r(22)(p11→q13) in a moderately mental
✍ V. Aller; J. A. Abrisqueta; M. L. de Torres; M. A. Martín-Lucas; A. Pérez-Castil 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 278 KB

An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.