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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 121 - 126 (6page)
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초록· 키워드
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A de novo complex chromosomal rearrangement is very rare but likely to be present in a child with developmental disabilities and physical alterations. A child presented in this study showed global developmental delay and some typical phenotypes. Initial karyotyping and FISH analysis in the patient showed an apparently de novo balanced translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2). Further analysis using multiplex ligation-dependent probe amplification and array-based comparative genomic hybridization revealed a cryptic microdeletion on 3p13 region. Nearly one-third of balanced rearrangements are reported to involve cryptic disruptions at breakpoints, however, the microdeletion of the proposita was present in non-translocated region of the chromosome 3. After careful reevaluation of the results, a pericentric inversion, inv(3)(p13q13.1) that induced deletion was revealed. The clinical features of developmental delay in cognition, language, and motor function and facial and physical phenotype of the proposita were similar to those found in the children with 3p13 deletion. This case shows that combined molecular cytogenetic techniques with routine karyotyping are very useful to identify subtle genomic changes associated with abnormal phenotypes.
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참고문헌 (21)
참고문헌 신청
Bosio Y / 2012 / PPP4R2 regulates neuronal cell differentiation and survival, functionally cooperating with SMN / Eur J Cell Biol 91:662~674
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 44:750~762
Ferland RJ / 2003 / Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain / J Comp Neurol 460:266~279
Gribble SM / 2005 / The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes / J Med Genet 42:8~16
Hamdan FF / 2010 / De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment / Am J Hum Genet 87:671~678
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 44:750~762
Ferland RJ / 2003 / Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain / J Comp Neurol 460:266~279
Gribble SM / 2005 / The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes / J Med Genet 42:8~16
Hamdan FF / 2010 / De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment / Am J Hum Genet 87:671~678
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