Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12).
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014314:Trisomy; D014960:X Chromosome