Related Experiment Video
Updated: Aug 17, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)
Clinical Genetics
|August 1, 1981
Abstract:
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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