## Abstract We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15) (p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15) (p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congen
X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes
β Scribed by Christine M. Disteche; Karen Swisshelm; S. Forbes; Roberta A. Pagon
- Publisher
- Springer
- Year
- 1984
- Tongue
- English
- Weight
- 952 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0340-6717
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We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivatio
We report a JAK2 V617F-negative case of polycythemia vera with two acquired balanced X-autosome translocations and no history of previous exposure to chemo/radiotherapy. The patient's first clone carried a novel translocation t(X;15)(q24;q13) as a sole abnormality. The second clone exhibited an addi