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47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat

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

Publisher
Springer
Year
1977
Tongue
English
Weight
298 KB
Volume
37
Category
Article
ISSN
0340-6717

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✦ Synopsis

Report of a supernumerary extra chromosome der(11;22)(q23;q12) resulting from a balanced translocation in the mother. The propositus suffers from mental deficiency, deafness and extreme muscular weakness and exhibits cleft palate, a labial lymphangioma and an atrial septum defect. Since the features of partial trisomy 11q23 frequently associated with a translocation t(11q;22q) bear similarities with the cases of so called trisomy 22 one might conjecture that some of these observations are in fact products of translocations including partial 11q.

πŸ“œ SIMILAR VOLUMES

Partial trisomy of 13(pter→q12) due to 4
Partial trisomy of 13(pter→q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat
✍ Sri J. Moedjono; R. S. Sparkes πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 864 KB

A 36-month-old boy presented with short stature, short neck, shield-shaped chest, and mental retardation, chromosome analysis showed trisomy for the short arm and the proximal portion of the long arm of chromosome 13 [47,XY,+der(13),t(13;22)(q12;q13)mat]. The patient's mother has a balanced transloc