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- W1965076304 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." @default.
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- W1965076304 date "2000-04-24" @default.
- W1965076304 modified "2023-09-23" @default.
- W1965076304 title "Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1)" @default.
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- W1965076304 doi "https://doi.org/10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co;2-f" @default.
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