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trisomy 22 syndrome相关文献:
A rare mosaic trisomy 22 syndrome in a 7-year-old boy: rare case report.
Khalid R, Fadl-Elmula I.
Sudan J Paediatr. 2024;24(2):175-179. doi: 10.24911/SJP.106-1713472421.
PMID:39867277
Trisomy 22 mosaicism.
Mollica F, Sorge G, Pavone L.
J Med Genet. 1977 Jun;14(3):224-5. doi: 10.1136/jmg.14.3.224.
PMID:881717
[Trisomy 22 syndrome: a case report].
Yan JX, Liu XF, Wang GH, Yan CY.
Zhongguo Dang Dai Er Ke Za Zhi. 2015 Jul;17(7):753-4.
PMID:26182287
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.
Nardelli A, Laskoski LV, Luiz AF, Silveira MAD, d'Arce LPG.
BMC Med Genomics. 2023 Nov 13;16(1):286. doi: 10.1186/s12920-023-01709-2.
PMID:37957608
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.
Emanuel BS, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS.
J Med Genet. 1976 Dec;13(6):501-6. doi: 10.1136/jmg.13.6.501.
PMID:138742
Trisomy 22 with long spina bifida occulta: A case report.
Ma L, Ouyang Y, Qi Q, Hao N, Zhao D, Jiang Y, Meng H.
Medicine (Baltimore). 2018 Sep;97(39):e12306. doi: 10.1097/MD.0000000000012306.
PMID:30278506
Trisomy 22: the heart aspect.
Kontomanolis EN, Pandya P, Limperis V.
J Obstet Gynaecol. 2010;30(6):627-8. doi: 10.3109/01443615.2010.494204.
PMID:20701517
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.
Kehinde FI, Anderson CE, McGowan JE, Jethva RN, Wahab MA, Glick AR, Sterner MR Jr, Pascasio JM, Punnett HH, Liu J.
Am J Med Genet A. 2014 Dec;164A(12):3187-93. doi: 10.1002/ajmg.a.36778. Epub 2014 Sep 24.
PMID:25257307
A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?
Caglayan AO, Klammt J, Kiess W, Hatipoglu N, Pfäffle R, Kurtoglu S, Saatci C, Dundar M.
Genet Couns. 2010;21(2):187-97.
PMID:20681219
Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases.
Minella C, Jeandidier E, Koch A, Antal MC, Favre R, Sananes N, Weingertner AS.
Fetal Diagn Ther. 2024;51(2):112-124. doi: 10.1159/000534619. Epub 2023 Nov 3.
PMID:37926071
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