| A Case of Partial Trisomy 9 by Balanced Maternal Translocation |
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Mi Kyung Kim1, Young Kyoo Shin1, Baik Lin Eun1, Sang Hee Park1, Sun Hwa Park2, Soon Hyuk Lee3 |
1Department of Pediatrics, Korea University, Seoul, Korea
2Department of Anatomical Pathology & Institute of Human Genetics, Korea University, Seoul, Korea
3Department of Orthopedic, Korea University, Seoul, Korea |
| 모체의 균형적 전위에 의해 발생된 Partial Trisomy 9 증후군 1례 |
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김미경1, 신영규1, 은백린1, 박상희1, 박선화2, 이순혁3 |
1고려대학교 의과대학 소아과학교실
2고려대학교 의과대학 해부학교실 유전병연구소
3고려대학교 의과대학 정형외과학교실 |
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| Abstract |
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Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital anomalies of frontal bossing, oblique antimongoloid palpebral fissures, enophthalmos, hypertelorism, globular prominent nose, down-turned mouth, prominent low-set ears, simian creases of both hands, clinodactyly and single crease of 5th finger, congenital dislocation of both knees and mental retardation. In cytogenetic studies using G banding technique and fluorescent in situ hybridization(FISH), she presented with an extra derivative chromosome No. 9. The karyotype of the patient was confirmed as 47,XX,＋der(9),t(6:9)(q27;q21.2) mat. We report the case with the review of the associated literatures. |
| Key Words:
Partial trisomy 9, Maternal translocation, Multiple congenital anomalies |
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