母源单亲异二体致Prader-Willi综合征患儿1例

侯丽青, 侯东霞, 王杰, 武丽琼, 黄艳, 王晓华

中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (9) : 1060-1062.

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中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (9) : 1060-1062. DOI: 10.11852/zgetbjzz2020-0192
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母源单亲异二体致Prader-Willi综合征患儿1例

  • 侯丽青, 侯东霞, 王杰, 武丽琼, 黄艳, 王晓华
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侯丽青, 侯东霞, 王杰, 武丽琼, 黄艳, 王晓华. 母源单亲异二体致Prader-Willi综合征患儿1例[J]. 中国儿童保健杂志. 2020, 28(9): 1060-1062 https://doi.org/10.11852/zgetbjzz2020-0192
中图分类号: R725.9   

参考文献

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[8] Cassidy SB,Forsythe M,Heeger S,et al.Comparison of phenotype between patients with prader-willi syndrome due to deletion 15q and uniparental disomy 15[J].Am J Med Genet,1997,68(4):433-440.
[9] Gold JA,Mahmoud R,Cassidy SB,et al.Comparison of perinatal factors in deletion versus uniparental disomy in prader-willi syndrome[J].Am J Med Genet A,2018,176(5):1161-1165.
[10] Bennett JA,Germani T,Haqq AM,et al.Autism spectrum disorder in prader-willi syndrome:a systematic review[J].Am J Med Genet A,2015,167A(12):2936-2944.
[11] Aman LCS,Manning KE,Whittington JE,et al.Mechanistic insights into the genetics of affective psychosis from prader-willi syndrome[J].Lancet Psychiatry,2018,5(4):370-378.
[12] Novell-Alsina R,Esteba-Castillo S,Caixas A,et al.Compulsions in prader-willi syndrome:occurrence and severity as a function of genetic subtype[J].Actas Esp Psiquiatr,2019,47(3):79-87.
[13] 中国医师协会医学遗传学分会,中国医师协会青春期医学专业委员会临床遗传学组,中华医学会儿科学分会内分泌遗传代谢学组.染色体基因组芯片在儿科遗传病的临床应用专家共识[J].中华儿科杂志,2016,54(6):410-413.

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