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A patient with several cogenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype 46,X,der(X),t,X;3)(Xqter leads to p21::3q12 leads to 3qter). A comparison of the clinical and cytogenetical findings with smaller cases in the literature led to the conclusion that a partial trisomy 3q is the most likely cause for the symptoms in this patient.
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