14q32重复综合征1例的临床意义分析

Chinese Journal of Child Health Care ›› 2021, Vol. 29 ›› Issue (7) : 806-808.

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Chinese Journal of Child Health Care ›› 2021, Vol. 29 ›› Issue (7) : 806-808. DOI: 10.11852/zgetbjzz2020-1345

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[1] Chen CP,Chern SR,Lin SP,et al. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion[J]. Am J Med Genet A,2005,139A(2):146-150.
[2] Thiel CT,Dörr HG,Trautmann U,et al. A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction,distinct facial anomalies and mild developmental delay[J]. Eur J Med Genet,2008,51(4):362-736.
[3] Chen CP,Hwang KS,Su HY,et al. Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q(14q31.3→q32.12) associated with abnormal maternal serum biochemistry[J]. Taiwan J Obstet Gynecol,2013,52(1):125-128.
[4] Sgardioli IC,Simioni M,Viguetti-Campos NL,et al. A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion[J]. Gene,2013,523(2):192-194.
[5] Villa N,Scatigno A,Redaelli S,et al.14q32.3-qter trisomic segment:a case report and literature review[J]. Mol Cytogenet,2016,9:60.
[6] Saliba J,Saint-Martin C,Di Stefano A,etal.Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies[J].Nat Genet,2015,47(10):1131-1140.
[7] Lennon MJ. Bcl11b:a new piece to the complex puzzle of amyo-trophic lateral sclerosis neuropathogenesis?[J].Neurotox Res,2016,29(2):201-207.
[8] 门万夫,李文雅,钟欣文,等. BCL11基因与恶性肿瘤的关系[J]. 现代肿瘤医学,2016,24(8):1311-1315.
[9] Valbuena A,Sanz-García M,Ópez-Sánchez IL,et al. Roles of VRKl as a new player in the control of biological processes required for cell division[J].Cell Signal,2011,23(8):1267-1272.
[10] Valbuena A,Suarez-Gauthier A,Lopez-Rios F,et al.Alteration of the VRK1-p53 autoregulatory loop in human lung carcinomas[J].Lung Cancer,2007,58(3):303-309.
[11] FM Vega,A Sevilla,PA Lazo. p53 Stabilization and accumulation induced by human vaccinia-related kinase1[J].Mol Cell Biol,2004,24(23),10366-10380.
[12] Renbaum P,Kellerman E,Jaron R,et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in theVRK1 gene[J]. Am J Hum Genet,2009,85(2):281-289.
[13] Najmabadi H,Hu H,Garshasbi M,et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders[J].Nature,2011,478(7367):57-63.
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