中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (3): 346-348.DOI: 10.11852/zgetbjzz2022-0329
• 个案报道 • 上一篇
史晓依1, 宋春兰1, 袁二凤2, 张琳琳2, 姚梅玲1, 张玲玲3
收稿日期:
2022-03-18
修回日期:
2022-04-25
发布日期:
2023-02-28
出版日期:
2023-03-01
通讯作者:
宋春兰,E-mail:songchunlan0426@126.com
作者简介:
史晓依(1994-),女,河南人,硕士研究生,主要研究方向为儿童发育行为疾病。
Received:
2022-03-18
Revised:
2022-04-25
Online:
2023-03-01
Published:
2023-02-28
中图分类号:
史晓依, 宋春兰, 袁二凤, 张琳琳, 姚梅玲, 张玲玲. 9p缺失综合征合并46,XY性反转综合征及孤独症谱系障碍1例报道[J]. 中国儿童保健杂志, 2023, 31(3): 346-348.
[1] Mohamed AM, Kamel AK, Eid MM, et al. Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly[J]. Mol Genet Genomic Med, 2021,9(11):e1829. [2] 张林琳, 代云才, 施绍瑞. 46,XY女性性反转综合征的细胞遗传学诊断[J]. 中国优生与遗传杂志, 2015, 23(11):60-61. Zhang LL, Dai YC, Shi SR. Cytogenetic diagnosis of 46,XY female sex reversal syndrome[J]. Chinese Journal of Birth Health & Heredity, 2015, 23(11):60-61. [3] Spazzapan P, Arnaud E, Baujat G, et al. Clinical and neuroradiological features of the 9p deletion syndrome[J]. Childs Nerv Syst, 2016,32(2):327-335. [4] Jia X, Liu XY, Duan XC. A case of 9p deletion syndrome with congenital infantile glaucoma, effective method of diagnosis, and treatment[J]. Int J Ophthalmol, 2017,10(2):318-320. [5] Onesimo R, Orteschi D, Scalzone M, et al. Chromosome 9p deletion syndrome and sex reversal:Novel findings and redefinition of the critically deleted regions[J]. Am J Med Genet A, 2012,158A(9):2266-2271. [6] Han Y, Wang Y, Li Q, et al. Dysgerminoma in a case of 46,XY puregonadal dysgenesis (swyer syndrome):A case report[J]. Diagn Pathol, 2011,19(6):84. [7] Bashamboo A,Eozenou C,Rojo S,et al.Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development[J]. Clin Genet,2017,91(2):143-156. [8] Vinci G, Chantot-Bastaraud S, El Houate B, et al. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder[J]. Mol Hum Reprod, 2007,13(9):685-689. [9] Qiu S, Qiu Y, Li Y, et al. Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses[J]. Transl Psychiatry, 2022,12(1):249. [10] Ho A, Towheed A, Luong S, et al. Clinical disordance in monozygotic twins with autism spectrum disorder[J]. Cureus, 2022, 14(5):e24813. [11] Yang Y, Wang C, Wang F, et al. Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation[J]. Gene, 2012,502(2):154-158. [12] Geschwind DH. Genetics of autism spectrum disorders[J]. Trends Cogn Sci,2011, 15(9):409-416. [13] Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder[J]. BMC Medical Genetics, 2005,18(6):3. [14] Güneş S, Ekinci Ö, Ekinci N, et al. Coexistence of 9p deletion syndrome and autism spectrum disorder[J]. J Autism Dev Disord, 2017,47(2):520-521. [15] Karba BE, Lemay JF, McLeod SA. et al. The Clinical dilemma of autism spectrum disorder diagnosis in a child with 9p deletion[J]. J Pediatr Genet, 2021,10(3):250-252. [16] Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants:A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)[J]. Genet Med, 2020, 22(2):245-257. |
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