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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Holder S E, Grimsley L M, Palmer R W, Butler L J, Baraitser M: Partial trisomy 3q causing mild Cornelia de Lange phenotype. J. Med. Genet. 31:150-152, 1994. [PMC free article: PMC1049680] [PubMed: 8182724]Proband-46,XX,ins(10;3)(q21.2;q25.1q26.2)pat.,Father-46,XY,del(3)(q25.1q26.2),ins(10;3)(q21.2;q25.1q26.2).Aberration: Direct insertion between two chromosomesMIM#: 122470Chromosomal Aneuploidy: 3q+Index Terms: Cornelia de Lange phenotypeNegative band
- Lopez-Rangel E, Dill F J, Hrynchak M A, Van Allen M I: Partial duplication of 3q(q25.1 to q26.1) without the Brachmann-de Lange phenotype. AJMG 47:1068-1071, 1993. [PubMed: 8291525]Patient A.H. was in her teens.46,XX,dup(3)(q25.1q26.1)de novo.This issue (No. 7) has several papers on BDLS.Aberration: Direct duplicationMIM#: 122470Chromosomal Aneuploidy: 3q+Index Terms: Brachmann-Cornelia de Lange syndrome (BDLS)Negative band
- Robin N H, Magnusson M, McDonald-McGinn D, Zackai E H, Spinner N B: De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1). Clin. Genet. 44:335-337, 1993. [PubMed: 8131307]46,XX,del(3)(q25.1q26.1)de novo.Patient was 17 months old.Aberration: Interstitial deletionChromosomal Aneuploidy: 3q-Negative band
- Zafra de la Rosa G, Venegas-Vega C A, Monroy N, Contreras-Bucio G, Friedrich U, Houman M, Saad A, Fernanadez P, Kofman-Alfaro S, Cervantes A.: Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype. AJMG 136A: 259-264, 2005. [PubMed: 15957183]Conventional,GTG,QFQ, and CBG banding=46,XY,add(8p).,46,XY,der(8)(8qter->8p23.1::3q25.1->3qter)de novo.The infant was 9 months old with features of Cornelia de Lange syndrome.Both the abnormal chromosomes were found to be paternal.Aberration: Simple translocationChromosomal Aneuploidy: 3q+;8p-
- 03q251 - Chromosomal Variation in Man03q251 - Chromosomal Variation in Man
- PREDICTED: Chlorocebus sabaeus staufen double-stranded RNA binding protein 2 (ST...PREDICTED: Chlorocebus sabaeus staufen double-stranded RNA binding protein 2 (STAU2), transcript variant X1, mRNAgi|1938847060|ref|XM_038000382.1|Nucleotide
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