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引用本文的文献
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Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.
Case Rep Genet. 2019 Dec 28;2019:7250838. doi: 10.1155/2019/7250838. eCollection 2019.
本文引用的文献
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Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case.
Chin Med J (Engl). 2017 Dec 20;130(24):3007-3008. doi: 10.4103/0366-6999.220308.
2
Molecular cytogenetic characterisation of a novel ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.
Mol Cytogenet. 2017 Mar 23;10:9. doi: 10.1186/s13039-017-0311-y. eCollection 2017.
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A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES.
Genet Couns. 2015;26(2):213-7.
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003.
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Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.
Cytogenet Genome Res. 2014;144(2):104-8. doi: 10.1159/000368649. Epub 2014 Nov 6.
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Ring chromosome 13 and ambiguous genitalia.
J Clin Res Pediatr Endocrinol. 2014;6(2):122-4. doi: 10.4274/Jcrpe.1194.
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Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.
Genet Couns. 2013;24(2):193-200.
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Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011.
Am J Med Genet A. 2013 Oct;161A(10):2512-8. doi: 10.1002/ajmg.a.36127. Epub 2013 Aug 15.
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Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.
Gene. 2013 Oct 15;529(1):163-8. doi: 10.1016/j.gene.2013.07.050. Epub 2013 Aug 8.
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Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13.
Genet Mol Res. 2013 Apr 25;12(2):1311-7. doi: 10.4238/2013.April.25.2.
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