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- 저자 : Eulju Seo (검색결과 2 건)
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Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure
Sujin Jun,Yena Lee,Arum Oh,Gu-Hwan Kim,Eulju Seo,Beom Hee Lee,Jin-Ho Choi,Han-Wook Yoo 대한의학유전학회 2019 대한의학유전학회지 Vol.16 No.2
Purpose: Potocki–Lupski syndrome (PTLS), is a recently identiἀed, rare genomic disorder. The patients are affected by in-fantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical ἀndings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe ampliἀcation (MLPA) analyses were done for genetic diagnoses.Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asym-metric smile and palpebral ἀssures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identi-ἀed by conventional karyotyping analysis only in one patient, whereas the other conἀrmed by MLPA analyses.Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial fea-tures. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to under-stand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.
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Identification of Potocki-Lupski syndrome in patients with developmental delay and growth failure
Jun, Sujin,Lee, Yena,Oh, Arum,Kim, Gu-Hwan,Seo, Eulju,Lee, Beom Hee,Choi, Jin-Ho,Yoo, Han-Wook Korean Society of Medical Genetics and Genomics 2019 대한의학유전학회지 Vol.16 No.2
Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.
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