Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism
β Scribed by Margherita Cirillo Silengo; Graciela Lopez Bell; M. Biagioli; P. Franceschini
- Book ID
- 115089766
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 244 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0009-9163
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A woman in the fourth year of agnogenic myeloid metaplasia was found to have partial deletion of the long arm of chromosome 20 [46,XX,del(20)(q11)] in mitoses of presumably immature myeloid cells from unstimulated cultures of peripheral blood and bone marrow. Cytogenetic studies of peripheral blood
A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter leads to p11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.
We report on a terminal deletion of the long arm of chromosome 3 [46,XX,de1(3)(q27+qter)l in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compare