All issues > Volume 29(12); 1986

Case Report

J Korean Pediatr Soc. 1986;29(12):1382-1386. Published online December 31, 1986.

Partial Trisomy10(q22~q26).

Hyung Chai Kang¹, Sung Myun Woh¹, Dong Whan Lee¹, Sang Jhoo Lee¹, Shin Yong Moon²

¹Department of Pediatrics, College of Medicine、Soonchunhyang University
²Department of Obstet & Gynecol, College of Medicine, Seoul National University

Abstract

Partial trisomy 10(q22-q26) is a extremely rare chromosomal anomaly. The authors experienced a case of this syndrome in a female newborn infant. She showed prominent occiput, flat face, blepharophimosis, hypertelorism, lowset ears, micrognathia, high-arched palate, simian crease on Lt. palm & overlapping of the 5th finger over the 4th finger, relatively great big toe, and single umbilical artery.Chromosomal study showed the abnormal chromosome in No. 21 chromosome, that is the partial fragment(q22〜q26) of paternal No. 10 Chromosome attached to the qter of No. 21 chromosome. So, Karyotypically, she was depicted as a 46， XX, der 21, t(10,21), (q22, qter), and father, as a 46, XY, t(10,21), (q22, qter). So, we confirmed as a partial trisomy 10(q22-q26) and report this case with a brief review of the literatures.

Keywords :Trisomy 10q; Partial trisomy 10(q22 〜q26).