Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 20 (2) , 130-134
- https://doi.org/10.1111/j.1399-0004.1981.tb01817.x
Abstract
A patient with several congenital malformations, principally in the face, cardiovascular system and genitalia, had the karyotype (46,X,der(X),t,X;3)(Xqter .fwdarw. p21::3q12 .fwdarw. 3qter). A comparison of the clinical and cytogenetical findings with similar cases in the literature led to the conclusion that a partial trisomy 3q is the most likely cause for the symptoms in this patient.Keywords
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