Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21

JohnT.Martsolf; M.Ray; FredBauderRodBoychukJ.D.Armstrong

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Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21

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This report describes a female infant with a 47,X,del(X)(p11),+21 karyotype who has clinical features of both Down and Turner syndromes. The majority of her clinical features are suggestive of Down syndrome.

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《Human Genetics 》 |1977年第1期| 103-108| 共页
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JohnT.Martsolf; M.Ray; FredBauderRodBoychukJ.D.Armstrong;
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1. Ullrich‐Turner syndrome in mother and daughter: Prenatal diagnosis of a 46, X, del(X)(p21) offspring from a 45, X mother with low‐level mosaicism for the del(X)(p21) in one ovary [J] . M. Varela, E. Shapira, D. B. Hyman american journal of medical genetics . 1991 ,第4期

机译：Ullrich‐Turner syndrome in mother and daughter: Prenatal diagnosis of a 46, X, del(X)(p21) offspring from a 45, X mother with low‐level mosaicism for the del(X)(p21) in one ovary
2. Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52 [J] . C. Panarello, M. Acquila, D. CaprinoG. GimelliM. PecoraraP.G. Mori cytogenetic and genome research . 1992 ,第4期

机译：Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52
3. VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome) [J] . Stubbins Ryan J., McGinnis Eric, Johal BhupinderChen Luke Y. C.Wilson LorenaCardona Daniela OspinaNeyill Thomas J. Haematologica . 2022 ,第4期

机译：VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)
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Down and Turner syndromes in a female infant with 47,X,del(X)(p11),+21

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