Acta Paediatrica 32. (1992)

1. szám - A. Selypes-Enikő Sólyom-S. Takács: A new chromosomal translocation t/(l;22) (q25;q12) in a 17-month-old girl

Acta Paediatrica Hungarica 32 (1), pp. 3-10 (1992) A NPfci CHROMOSOMAL TRANSLOCATION t/l;22/ /q25;ql2/ IN A 17-MONTH-OLD GIRL A. SELYPES1, Enikő SÚLYOM2, S. TAKÁCS1 DöJÁL, Miskolc, Hungary department of Pediatrics, County Hospital, Miskolc, Hungary Received 5 December 1990 A 17-month-old girl with multiple anomalies and a de novo translocation of chromosomes 1 and 22 (t/1;22/ /q25;ql2/) is described. INTRODUCTION The symptoms in patients with deletion of chromosome lq can be divided into three groups on the basis of the location of the deletion /10/,- as follows: group 1: distal lq /lq42-43—^ lqter/ deletion syndrome; group 2: interstitial lq /lq24-25 —> q32/ deletion syndrome; group 3: proximal lq /lq21-22—3>q25/ deletion syndrome. In 1988, Dasouki et al./1/ reported an eight-month-old girl with symmetrical bilateral oblique facial clefts, a calcaneovarus foot deformity, and a balanced chromosomal translocation t/1; 2 2/ /q25;ql2/. In this report, we present a 17-month-old girl with a chromosomal translocation t/1; 2 2/ /q25;ql2/. Su-gui et al./9 earlier found a male patient with a chromosomal translocation t/1 ; 15/ /q25;q24/ among couples associated with abortions or stillbirth. Unfortunately, the symptoms of their patient were not described. Akadémiai Kiadó, Budapest

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