지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 49 - 53 (5page)
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초록· 키워드
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Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. The proband presented with facial dysmorphism, arthrogryposis, and intrauterine growth retardation. Most cases of Miller-Dieker syndrome have a de novo deletion involving 17p13.3. When Miller-Dieker syndrome is caused by an unbalanced translocation, mild-to-severe phenotypes occur according to the extension of the involved partner chromosome. However, a pure partial monosomy derived from a paternal balanced translocation is relatively rare. In this case, the submicroscopic cryptic deletion in the proband was initially elucidated by FISH, and karyotype analysis did not reveal additional chromosome abnormalities such as translocation. However, a family history of recurrent pregnancy abnormalities strongly suggested familial translocation. Sequential G-banding and FISH analysis of the father’s chromosomes showed that the segment of 17p13.3→pter was attached to the 12qter. Thus, we report a case that showed resemblance to the findings in cases of a nearly pure 17p deletion, derived from t(12;17), and delineated by whole genome array comparative genomic hybridization (CGH). If such cases are incorrectly diagnosed as Miller-Dieker syndrome caused by de novo 17p13.3 deletion, the resultant improper genetic counseling may make it difficult to exactly predict the potential risk of recurrent lissencephaly for successive pregnancies. (Korean J Lab Med 2011;31:49-53)
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참고문헌 (18)
참고문헌 신청
Bao L / 2005 / A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother / Am J Med Genet A 138 : 361 ~ 364
Cardoso C / 2003 / Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes second
Coe BP / 2007 / Resolving the resolution of array CGH / Genomics 89 : 647 ~ 653
De Gregori M / 2007 / Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients / J Med Genet 44 : 750
Dobyns WB / 1991 / Clinical and molecular diagnosis of Miller-Dieker syndrome / Am J Hum Genet 48 : 584 ~ 594
Cardoso C / 2003 / Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes second
Coe BP / 2007 / Resolving the resolution of array CGH / Genomics 89 : 647 ~ 653
De Gregori M / 2007 / Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients / J Med Genet 44 : 750
Dobyns WB / 1991 / Clinical and molecular diagnosis of Miller-Dieker syndrome / Am J Hum Genet 48 : 584 ~ 594
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