| Partial Trisomy10(q22~q26). |
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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 |
| Partial Triscmy 10 (q22~q26) 1례 |
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강형채1, 원성면1, 이동환1, 이상주1, 문 신 용2 |
1순천향의대 소아과학교실
2서울의대 산부인과학교실 |
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| Abstract |
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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.
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| Key Words:
Trisomy 10q, Partial trisomy 10(q22 〜q26). |
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