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Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication.

作者信息

Jo Ha Young, Jang Hyun Ji, Kim Young Mi, Choi Soo-Han, Park Kyung Hee, Yoo Hye Won, Park Su Jeong, Jo Yoon Hee, Kwak Min Jung

机构信息

Department of Pediatrics, Pusan National University Hospital, Busan, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2023 Dec;28(Suppl 1):S14-S16. doi: 10.6065/apem.2244122.061. Epub 2023 Feb 1.

DOI:10.6065/apem.2244122.061
PMID:36731505
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10783925/
Abstract
摘要

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1
Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication.因Xp22.33缺失合并7p22.3重复所致的特纳综合征。
Ann Pediatr Endocrinol Metab. 2023 Dec;28(Suppl 1):S14-S16. doi: 10.6065/apem.2244122.061. Epub 2023 Feb 1.
2
A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome.一例7p22.2微重复病例：7p2重复综合征关键染色体区域的细化
J Pediatr Genet. 2015 Mar;4(1):34-7. doi: 10.1055/s-0035-1554980.
3
Girl with partial Turner syndrome and absence epilepsy.患有部分特纳综合征和失神癫痫的女孩。
Pediatr Neurol. 2008 Apr;38(4):289-92. doi: 10.1016/j.pediatrneurol.2007.11.008.
4
Schizophrenia susceptibility gene locus at Xp22.3.
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5
7p22.1 microduplication syndrome: Refinement of the critical region.7p22.1微重复综合征：关键区域的细化
Eur J Med Genet. 2017 Feb;60(2):114-117. doi: 10.1016/j.ejmg.2016.11.005. Epub 2016 Nov 16.
6
[Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication].[一例携带7p22.3缺失、7p22.3p22.2重复及7q33q36.3重复病例的临床与遗传学分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):708-711. doi: 10.3760/cma.j.issn.1003-9406.2019.07.013.
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Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.因Xp22.33缺失导致的特纳综合征伴性腺功能保留：病例报告
Oxf Med Case Reports. 2019 May 31;2019(5):omz028. doi: 10.1093/omcr/omz028. eCollection 2019 May.
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Turner syndrome presented with tall stature due to overdosage of the SHOX gene.特纳综合征因SHOX基因过量表达而表现为身材高大。
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Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.87 例胎儿中 Xp22.31 拷贝数变异：产前和产后随访的精细基因型-表型相关性。
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7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.7p22.1微重复综合征：一例成人病例的临床与分子特征及文献综述
Eur J Med Genet. 2015 Nov;58(11):578-83. doi: 10.1016/j.ejmg.2015.08.003. Epub 2015 Aug 19.

本文引用的文献

1
Limitations of exome sequencing in detecting rare and undiagnosed diseases.外显子组测序在检测罕见病和不明原因疾病方面的局限性。
Am J Med Genet A. 2020 Jun;182(6):1400-1406. doi: 10.1002/ajmg.a.61558. Epub 2020 Mar 19.
2
Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.因Xp22.33缺失导致的特纳综合征伴性腺功能保留：病例报告
Oxf Med Case Reports. 2019 May 31;2019(5):omz028. doi: 10.1093/omcr/omz028. eCollection 2019 May.
3
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
特纳综合征患者护理临床实践指南：2016 年辛辛那提国际特纳综合征会议纪要。
Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430.
4
A rare case of Turner's syndrome presenting with Mullerian agenesis.1例罕见的伴有苗勒管发育不全的特纳综合征病例。
J Hum Reprod Sci. 2013 Oct;6(4):277-9. doi: 10.4103/0974-1208.126313.
5
Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.单核苷酸多态性微阵列基因分型与中期细胞遗传学检查在 Turner 综合征诊断中的等效性。
Genet Med. 2014 Jan;16(1):53-9. doi: 10.1038/gim.2013.77. Epub 2013 Jun 6.
6
Turner Syndrome and apparent absent uterus: a case report and review of the literature.特纳综合征与子宫明显缺如：一例病例报告及文献综述
J Pediatr Endocrinol Metab. 2013;26(5-6):587-9. doi: 10.1515/jpem-2012-0408.
7
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.染色体微阵列分析划定的 Xp22.33-Xp22.12 家族性缺失导致身材比例矮小。
Am J Med Genet A. 2012 Jun;158A(6):1462-6. doi: 10.1002/ajmg.a.35357. Epub 2012 May 11.
8
A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.
Hum Genet. 2006 Jan;118(5):640-51. doi: 10.1007/s00439-005-0081-1. Epub 2005 Nov 8.
9
Gonadal and müllerian duct agenesis in a girl with 46,X,i(Xq).一名46,X,i(Xq)女孩的性腺和苗勒管发育不全
Obstet Gynecol. 1984 Mar;63(3 Suppl):81S-83S.
10
Emerging phenotype of duplication (7p): a report of three cases and review of the literature.
Am J Med Genet. 1989 Jul;33(3):364-8. doi: 10.1002/ajmg.1320330315.