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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 66 - 70 (5page)
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Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.
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등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Ballif BC / 2006 / Detection of low-level mosaicism by array CGH in routine diagnostic specimens / Am J Med Genet A 140 : 2757 ~ 2767
Bejjani BA / 2005 / Array-based comparative genomic hybridization in clinical diagnosis / Expert Rev Mol Diagn 5 : 421 ~ 429
Cobben JM / 2013 / Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of f
Hall BD / 1985 / Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time / Clin Genet 27 : 284 ~ 285
Hodge JC / 2012 / Array CGH on unstimulated blood does not detect all cases ofPallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard / Am J Med
Bejjani BA / 2005 / Array-based comparative genomic hybridization in clinical diagnosis / Expert Rev Mol Diagn 5 : 421 ~ 429
Cobben JM / 2013 / Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of f
Hall BD / 1985 / Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time / Clin Genet 27 : 284 ~ 285
Hodge JC / 2012 / Array CGH on unstimulated blood does not detect all cases ofPallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard / Am J Med
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