A tandem duplication of 5q13 to 5q22, visualized using GTG- and RBA-banding, was found in a mentally defective girl with craniofacial dysmorphy.
An r(22)(p11→q13) in a moderately mentally retarded girl
✍ Scribed by V. Aller; J. A. Abrisqueta; M. L. de Torres; M. A. Martín-Lucas; A. Pérez-Castillo; J. Del Mazo
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 278 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
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.
📜 SIMILAR VOLUMES
A ring chromosome 22 is described in a 6-year-old mentally retarded boy, who presented a dysmorphic syndrome. The ring chromosome 22 was inherited from the mother, in whom a 46,XX/46,XX,r(22)/45,XY,-15,-22,+t(15;22)(p11;q11) mosaic karyotype was found, indicating a high degree of instability of the
We report on a case with a partial monosomy for the regions 9p23 → pter and 13p11 → pter as a result of a de novo translocation (9p23;13p11). The patient, a 16year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck. Cytogene