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A Case of Trisomy 9 Mosaicism Confirmed by Microarray Test

Kosin Medical Journal 2020년 35권 2호 p.143 ~ 150
박창언, 정미림, 황지혜, Lee Min-Kyeong,
소속 상세정보
박창언 ( Park Chang-Eon ) - Inje University College of Medicine Haeundae Paik Hospital Department of Pediatrics
정미림 ( Chung Mi-Lm ) - Inje University College of Medicine Haeundae Paik Hospital Department of Pediatrics
황지혜 ( Hwang Ji-Hye ) - Inje University College of Medicine Haeundae Paik Hospital Department of Pediatrics
 ( Lee Min-Kyeong ) - Inje University College of Medicine Haeundae Paik Hospital Department of Pediatrics

Abstract


Trisomy 9 mosaicism syndrome is a rare chromosomal abnormality with a high incidence of natural abortion and perinatal death. This syndrome is characterized by intrauterine growth retardation, mental retardation, craniofacial dysmorphism including a prominent nasal bridge with a short root and a fish-shaped mouth with thin lips, skeletal abnormalities, congenital heart defects, and genital abnormalities. The incidence and severity of malformations depend on the percentage of trisomic cells in the different tissues. We report a neonate who had the characteristic features of trisomy 9 syndrome with dysmorphic featuresincluding micrognathia, microcephaly, a low-set and malformed ear, a prominent lip, and cardiac defect. No chromosomal abnormalities were detected on a routine peripheral blood chromosomal analysis; however, a chromosomal abnormality with trisomy 9 mosaicism (low-level mosaic type) was detected on genetic tests. Thisisthought to be due to the low proportion of trisomic cells, and for this reason, the patient in this case shows a better prognosis than four patients previously reported in Korea, they were all diagnosed by peripheral blood chromosome testing.

키워드

Fluorescence in situ hybridization; Microarray test; Trisomy 9 mosaicism

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