• Journal of Genetic Medicine
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• 제10권2호
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• pp.117-119
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• 2013

Double trisomy mosaicism of two different cell lines is extremely rare, particularly those that involve constitutional trisomy 8. We report a case of 47,XXX/47,XX,+8 in a 12-year-old female presenting with several skeletal anomalies. She exhibited distinct phenotypic features such as tall stature, deviation of the left middle finger, webbing of both thumbs and flexion deformities of the both third and fifth distal intermediate phalanges. A mild impulse-control disorder was observed, without mental retardation. Chromosomal and fluorescence in situ hybridization analysis demonstrated double trisomy mosaicism both on lymphocytes and buccal epithelial cells.

• 한국발생생물학회지:발생과생식
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• 제22권2호
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• pp.199-203
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• 2018

Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX). Given the difficulty in predicting the outcomes of fetuses with this mosaicism, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counseling for parents.

• Clinical and Experimental Pediatrics
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• 제55권10호
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• pp.393-396
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• 2012

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

• Clinical and Experimental Pediatrics
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• 제45권6호
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• pp.804-808
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• 2002

저자들은 폐형성부전과 다발성 선천성 기형을 가지고 있는 생존 출생아에서 말초혈액의 염색체 검사 및 FISH로 확인된 trisomy 22 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.1-7
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• 2017

Purpose: The aim of this study was to assess the diagnostic efficacy of noninvasive prenatal screening for trisomy 18 by assessing the levels of unmethylated-maspin (U-maspin) and fetal nuchal translucency (NT) thickness during the first trimester of pregnancy. Materials and Methods: A nested case-control study was conducted using maternal plasma samples collected from 65 pregnant women carrying 11 fetuses with trisomy 18 and 54 normal fetuses. We compared the U-maspin levels, NT thicknesses, or a combination of both in the first trimester between the case and control groups. Results: U-maspin levels and NT thickness were significantly elevated in the first trimester in pregnant women carrying fetuses with trisomy 18 when compared to those carrying normal fetuses (27.2 vs. 6.6 copies/mL, P<0.001 for U-maspin; 5.9 vs. 2.0 mm, P<0.001 for NT). The sensitivities of the U-maspin levels and NT thickness in prenatal screening for fetal trisomy 18 were 90.9% and 90.9%, respectively, with a specificity of 98.1%. The combined U-maspin levels and NT thickness had a sensitivity of 100% in prenatal screening for fetal trisomy 18, with a specificity of 98.1%. Conclusion: A combination of U-maspin levels and NT thickness is highly efficacious for noninvasive prenatal screening of fetal trisomy 18 in the first trimester of pregnancy.

• Clinical and Experimental Pediatrics
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• 제55권3호
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• pp.107-110
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• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Clinical and Experimental Pediatrics
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• 제46권6호
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• pp.597-601
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• 2003

저자들은 저출생 체중과 호흡 곤란을 주소로 출생 직후 이송 된 여아에서, 진찰상 안면과 골격계 기형 소견 보여 말초 혈액에서 시행한 염색체 핵형 검사에서 trisomy 9, low level mosaic type으로 진단되었던 1례를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제6권1호
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• pp.95-99
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• 2009

산전에서 성염색체와 13번, 18번, 21번 염색체를 제외한상염색체의 모자이시즘은 발생빈도가 낮고 증례보고가 적어서 예후 예측이 어렵다. 저자들은 삼염색체성 5번, 16번, 20번의 산전진단 4례를 보고하고자 한다. 모자�� 삼염색체성 20번 2례 중 증례 1은 양수 염색체 검사에서 36.6%의 모자이시즘을 보였으나 재검한 양수 검사에서는 보다 높은 빈도 (62.1%)를 보였다. 증례2에서는 양수 염색체 검사에서 모자이시즘 삼염색체성 20번이 5.25% 였으나, 재검 양수천자결과는 정상 핵형을 보였다. 증례 3은 30개의 양수세포에서 삼염색체성 16번의 모자이시즘이 13.6% 관찰되었다. 임신 종결 후, 총60개의 태아 혈액 세포에서 모자이시즘 없는 정상 핵형이 관찰되었으나 태아의 피부 섬유아세포에서 얻은 40개의 중기상 세포에서는 22.5%의 삼염색체성 16번 모자이시즘을 보였다. 부검결과 심실중격결손(ventricular septal defect)이 관찰되었다. 증례 4는 76개의 중기상 세포에서 10.5%의 삼염색체성 5번 모자이시즘을 보였으나 태아의 초음파검사에서는 정상소견을 보였다. Level III 모자이시즘은진성 모자이시즘으로 간주되지만 발생빈도가 낮은 상염색체의 삼염색체성 모자이시즘은 태아의 예후를 예견하기 어려우므로 산전 진단시 여러 조직의 재검 및 태아 초음파 소견과 함께 다양한 임상적 접근 방법으로 그 해석에 신중을 기해야 할 것으로 사료된다.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.52-56
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• 2013

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.31-33
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• 2017

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental disomy (UPD). Noninvasive prenatal test (NIPT) reflects the genomic constitution of the placenta, not of the fetus itself. Feto-placental discrepancy can therefore cause false-positive (trisomy) NIPT results. These discordant NIPT results can serve as important clues to find UPD associated with confined placental mosaicism. We report a case with maternal UPD of chromosome 20, detected by NIPT of 1,000 high-risk pregnancies, carried out for detecting chromosomal abnormalities in Koreans.