| A Case of Partial Monosomy lOq Syndrome |
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Young Kyoun Kim, Yong Won Park, Chong Guk Lee, Sang Woo Kim |
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Department of Pediatrics, Inje University Seoul Paik Hospital, Seoul, Korea |
| 10번 염색체 장완 부분 결손 증후군 1례 |
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김영균, 박용원, 이종국, 김상우 |
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인제대학교 의과대학 서울백병원 소아과 |
Correspondence:
Young Kyoun Kim, Email: 1
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| Abstract |
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It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies and of them 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations are very low. Patients with partial deletion of the long arm of chromosome 10 are rare. We experienced a case of partial monosomy 10 in a 14-years-old girl. She showed mental and growth retardation, low-set malformed ears, hyperterolism, hypothyroidism and dilated cardiomyopathy. Chromosomal analysis on G-banding with high resolution showed a terminal deletion of the long arm of chromosome 10. Her karyotype was designated as 46, XX, del (l0) (q26). A brief review of literature is also presented. |
| Key Words:
Partial monosomy 10, Terminal deletion, Chromosome abnormality |
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