| [1] |
LIEHR T, AL-RIKABI A. Mosaicism:reason for normal phenotypes in carriers of small supernumerary marker chromosomes with known adverse outcome. A systematic review[J]. Front Genet, 2019,10:1131.
|
| [2] |
LEE J H, CHO H S, LEE E S, et al. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome[J]. Korean J Lab Med, 2010, 30(3):312-317.
|
| [3] |
BLENNOW E, NIELSEN K B, TELENIUS H, et al. Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization[J]. Am J Med Genet, 1995, 55(1):85-94.
|
| [4] |
RODRÍGUEZ L, LIEHR T, MRASEK K, et al. Small supernumerary chromosome marker generating complete and pure trisomy 18p,characterized by molecular cytogenetic techniques and review[J]. Am J Med Genet A, 2007, 143A(22):2727-2732.
|
| [5] |
MCGOWAN-JORDAN J, HASTINGS R, MOORE S. ISCN 2020:an international system for human cytogenomic nomenclature(2020)[M]. Basel:Karger, 2020.
|
| [6] |
AL AGEELI E, DRUNAT S, DELANOË C, et al. Duplication of the 15q11-q13 region:clinical and genetic study of 30 new cases[J]. Eur J Med Genet, 2014, 57(1):5-14.
|
| [7] |
COPPOLA A, RUOSI P, SANTULLI L, et al. Neurological features and long-term follow-up in 15q11.2-13.1 duplication[J]. Eur J Med Genet, 2013, 56(11):614-618.
DOI
PMID
|
| [8] |
MARINI C, CECCONI A, CONTINI E, et al. Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication[J]. Am J Med Genet A, 2013, 161A(6):1459-1464.
DOI
PMID
|
| [9] |
RIGGS E R, ANDERSEN E F, CHERRY A M, 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.
|
| [10] |
SUN M L, ZHANG H G, LIU X Y, et al. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome(sSMC)inherited from her mosaic sSMC(15)mother and a literature review[J]. Taiwan J Obstet Gynecol, 2020, 59(6):963-967.
|
| [11] |
XUE H, HUANG H, WANG Y, et al. Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis[J]. Mol Cytogenet, 2019,12:13.
|
| [12] |
CHEN C P, LIN C C, SU Y N, et al. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18[J]. Taiwan J Obstet Gynecol, 2010, 49(2):188-191.
|
| [13] |
GIANSANTE R, PALKA BAYARD DE VOLO C, ALFONSI M, et al. First case of two supernumerary markers derived from chromosome 5 and chromosome 8[J]. Mol Cytogenet, 2022, 15(1):26.
DOI
PMID
|
| [14] |
JAFARI-GHAHFAROKHI H, MORADI-CHALESHTORI M, LIEHR T, et al. Small supernumerary marker chromosomes and their correlation with specific syndromes[J]. Adv Biomed Res, 2015,4:140.
|
| [15] |
BARTELS I, SCHLUETER G, LIEHR T, et al. Supernumerary small marker chromosome(SMC)and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22:trisomy rescue due to marker chromosome formation[J]. Cytogenet Genome Res, 2003, 101(2):103-105.
|
| [16] |
SANTACROCE R, TRUNZO R, LECCESE A, et al. The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype[J]. Syst Biol Reprod Med, 2015, 61(6):398-402.
DOI
PMID
|
| [17] |
孟凡荣, 李晓洲, 李雪冰. 额外小标记染色体及其相关的特异综合征[J]. 天津医科大学学报, 2023, 29(3):336-340.
|
| [18] |
ROBINSON W P, BINKERT F, GINÉ R, et al. Clinical and molecular analysis of five inv dup(15)patients[J]. Eur J Hum Genet, 1993, 1(1):37-50.
|
| [19] |
BROWNE C E, DENNIS N R, MAHER E, et al. Inherited interstitial duplications of proximal 15q:genotype-phenotype correlations[J]. Am J Hum Genet, 1997, 61(6):1342-1352.
|
| [20] |
COOK E H Jr, LINDGREN V, LEVENTHAL B L, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication[J]. Am J Hum Genet, 1997, 60(4):928-934.
PMID
|
| [21] |
OZÇELIK T, LEFF S, ROBINSON W, et al. Small nuclear ribonucleoprotein polypeptide N(SNRPN),an expressed gene in the Prader-Willi syndrome critical region[J]. Nat Genet, 1992, 2(4):265-269.
|
| [22] |
PUFFENBERGER E G, JINKS R N, WANG H, et al. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder[J]. Hum Mutat, 2012, 33(12):1639-1646.
|
| [23] |
HARLALKA G V, BAPLE E L, CROSS H, et al. Mutation of HERC2 causes developmental delay with Angelman-like features[J]. J Med Genet, 2013, 50(2):65-73.
|
| [24] |
DENNIS N R, VELTMAN M W, THOMPSON R, et al. Clinical findings in 33 subjects with large supernumerary marker(15)chromosomes and 3 subjects with triplication of 15q11-q13[J]. Am J Med Genet A, 2006, 140(5):434-441.
|
| [25] |
FINUCANE B M, LUSK L, ARKILO D, et al. Gene reviews[M]. Seattle: University of Washington, 2016.
|
| [26] |
ZHU J, LIU H, TANG J, et al. Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions[J]. Br J Biomed Sci, 2016, 73(2):67-73.
|
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