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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- Brown S, Gersen S, Anyane-Yeboa K, Warburton D: "Preliminary definition of a ""critical region"" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature." AJMG 45:52-59, 1993. [PubMed: 8418661]Patient 10, S.H.46,XY,del(13)(q14.3q31.2) or (q21.2q32)de novo.Patient 5, M.M.46,XX,del(13)(q14.3q22)de novo.Patient 6, E.S.46,XX,del(13)(q14.3q31.3).Patient 7, N.M.46,XX,del(13)(q14.3q22).Aberration: Interstitial deletionChromosomal Aneuploidy: 13q-Negative band
- Eggermann T, Engels H, Heidrich-Kaul C, Moderau I, Schwanitz G.: Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18. Hum. Genet. 99:521-522, 1997. [PubMed: 9099844]46,XX,der(18)t(13;18)(18pter->18q23::13q14.3->13qter)de novoThe patient was 9 years old with MCA/MR.It is concluded that the de novo rearrangement occurred after zygote formation.Aberration: Simple translocationChromosomal Aneuploidy: 13q+; 18q-
- Same entry as in 13q1303,13q1307 (Rivera et al, 1981).
- Tranebjaerg L, Nielsen K B, Tommerup N, Warburg M, Mikkelsen M: Interstitial deletion 13q: Further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. AJMG 29:739-753, 1988. [PubMed: 3400720]Patient 346,XX,del(13)(q14.3q22.3).Aberration: Interstitial deletionChromosomal Aneuploidy: 13q-Negative band
- van Bon B W M, Koolen D A, Feenstra I, Neefs I, Pfundt R, Smeets D F, de Vries B B A.: Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review. Clin. Dysmorphol. 16: 279-282, 2007. [PubMed: 17786124]46,XY,del(13)(q14.3q21.33).arr cgh 13q14.3q21.33(RP11-686G10->RP11-10E17)x1 dn.Patient was 4 years old with developmental delay.Aberration: Interstitial deletionChromosomal Aneuploidy: 13q-
- PubMedLinks to PubMed
- 13q143 - Chromosomal Variation in Man13q143 - Chromosomal Variation in Man
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