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Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1)
K A Collins1, P Eydoux, A M Duncan
1F. Clarke Clinical Genetics Unit, Division of Medical Genetics, Montreal Children's Hospital, Montreal, QC, Canada.
American Journal of Medical Genetics
|April 15, 2000
Abstract:
We report on a 5-year-old girl with multiple congenital anomalies, developmental delay, and a de novo unbalanced translocation between chromosomes X and 1[46,X,der(X)-t(X;1)(q24;q31.1)] resulting in partial trisomy 1q and partial monosomy Xq. The karyotype shows inactivation of the abnormal X chromosome. The translocated portion of 1q remains active in the tissues studied. This is the third case report with partial trisomy 1q and partial monosomy Xq. However, it is the first with specific breakpoints at 1q31.1 and Xq24.