This paper reports the case of a one-day-old male child presenting the typical features of Patau's syndrome. The cytogenetic study by means of conventional techniques and GTG and QFQ banding techniques showed that the chromosomal pattern of the propositus was 46,XYq+,-21,+t(13q21q) 15ps+,22ps+, and
Translocation (13q21q)
β Scribed by Margareta Mikkelsen; A. Hansson; Petrea Jacobsen; N. Hobolth
- Publisher
- Springer
- Year
- 1975
- Tongue
- English
- Weight
- 256 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0340-6717
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π SIMILAR VOLUMES
Instances of balanced Robertsonian translocations between the homologues of chromosome 21 were observed in two couples with a history of repeated abortions. The male partner of one couple and the female partner of another couple exhibited this anomaly. The translocation (21q21q) was found to be tran
A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nas