PT  - JOURNAL ARTICLE
AU  - Utkus, Algirdas
AU  - Sorokina, Irina
AU  - Kucinskas, Vaidutis
AU  - Röthlisberger, Benno
AU  - Balmer, Damina
AU  - Brecevic, Lukrecija
AU  - Schinzel, Albert
TI  - Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)
AID  - 10.1136/jmg.36.1.73
DP  - 1999 Jan 01
TA  - Journal of Medical Genetics
PG  - 73--76
VI  - 36
IP  - 1
4099  - http://jmg.bmj.com/content/36/1/73.short
4100  - http://jmg.bmj.com/content/36/1/73.full
SO  - J Med Genet1999 Jan 01; 36
AB  - A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional translocation of segment 1p13→p22 into distal 6q in the father which had led, through unbalanced segregation, to duplication of 1p13.3→p22.1 in the proband. Familial duplication of such a small interstitial segment of 1p has not been reported previously, and the paucity of abnormal physical findings in the proband compared to previous patients with a similar aberration is remarkable.