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Phenotypic manifestation in a child with 46,X,der(X)t(X;1)(q24;q31.1)

✍ Scribed by Collins, Kelly A.; Eydoux, Patrice; Duncan, Alessandra M.V.; Ortenberg, June; Silver, Kenneth; Der Kaloustian, Vazken M.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 14 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000424)91:5<345::aid-ajmg4>3.0.co;2-f

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✦ Synopsis

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.

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