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Article

Interstitial 1q42-q44 deletion defined by FISH in a short-lived female.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2008

Córdova-Fletes C, Domínguez M G, Díaz-Rodríguez M, Ramírez-Dueñas M L, Rivera H

Abstract excerpt

We report a female newborn with a de novo 1q4 deletion ascertained by G bands but refined as an interstitial one by FISH with a subtelomeric 1q probe; hence, the final karyotype was 46,XX,del(1)(q42q44).ish subtel1q x 2. She presented a few typical features of the del(1q42) syndrome. Additionally, she showed occipital skin aplasia, interauricular communication, and intestinal perforation-obstruction and she died...

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PMID: 18564503

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