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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 254 - 259 (6page)
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초록· 키워드
오류제보하기
Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome resulting from malsegregation of a balanced translocation of maternal origin, with a comprehensive literature review.
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참고문헌 (18)
참고문헌 신청
Stengel-Rutkowski S / 1981 / New chromosomal dysmorphic syndromes. 4. Trisomy 12p / Eur J Pediatr 136:249~262
Uchida IA / 1973 / Identification of partial 12 trisomy by quinacrine fluorescence / J Pediatr 82:269~272
Fulcheri C / 2019 / Trisomy of the short arm of chromosome 12 associated with high cardiovascular risk: a case report / High Blood Press Cardiovasc Prev 26:143~144
Allen TL / 1996 / Cytogenetic and molecular analysis in trisomy 12p / Am J Med Genet 63:250~256
Zen PR / 2010 / Trisomy 12p syndrome secondary to a balanced familial translocation / Pediatr Int 52:e144~e146
Uchida IA / 1973 / Identification of partial 12 trisomy by quinacrine fluorescence / J Pediatr 82:269~272
Fulcheri C / 2019 / Trisomy of the short arm of chromosome 12 associated with high cardiovascular risk: a case report / High Blood Press Cardiovasc Prev 26:143~144
Allen TL / 1996 / Cytogenetic and molecular analysis in trisomy 12p / Am J Med Genet 63:250~256
Zen PR / 2010 / Trisomy 12p syndrome secondary to a balanced familial translocation / Pediatr Int 52:e144~e146
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