저자들은 반복적 구토와 식욕부진을 주소로 내원한 3세 여아에서 염색체 핵형검사 및 소변 유기산 검사를 통해 3-ketothiolase 결핍증을 동반한 partial trisomy 9p를 보인 환아 1례를 경험하였기에 ...
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https://www.riss.kr/link?id=A76447445
2006
-
516
KCI등재후보
학술저널
375-379(5쪽)
0
상세조회0
다운로드국문 초록 (Abstract)
저자들은 반복적 구토와 식욕부진을 주소로 내원한 3세 여아에서 염색체 핵형검사 및 소변 유기산 검사를 통해 3-ketothiolase 결핍증을 동반한 partial trisomy 9p를 보인 환아 1례를 경험하였기에 ...
저자들은 반복적 구토와 식욕부진을 주소로 내원한 3세 여아에서 염색체 핵형검사 및 소변 유기산 검사를 통해 3-ketothiolase 결핍증을 동반한 partial trisomy 9p를 보인 환아 1례를 경험하였기에 보고하는 바이다.
다국어 초록 (Multilingual Abstract)
Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skel...
Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.
Gamma-GTP의 점진적인 상승을 보인 혈관 확장성 실조증 1례