TY - JOUR T1 - Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1) JF - Journal of Medical Genetics JO - J Med Genet SP - 73 LP - 76 DO - 10.1136/jmg.36.1.73 VL - 36 IS - 1 AU - Algirdas Utkus AU - Irina Sorokina AU - Vaidutis Kucinskas AU - Benno Röthlisberger AU - Damina Balmer AU - Lukrecija Brecevic AU - Albert Schinzel Y1 - 1999/01/01 UR - http://jmg.bmj.com/content/36/1/73.abstract N2 - 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. ER -