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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- Fitchett M, Downing R G, Hopkinson D A, Bayley A C: Interstitial deletion of chromosome band 13q14 associated with squamous cell carcinoma. J. Med. Genet. 21:399, 1984. [PMC free article: PMC1049332] [PubMed: 6502658]Lymphocyte cultures were normal karyotypically but monolayer cultures from lymph node tissue showed: 46,XY,del(13)(pter -> q14.11::q14.3 -> qter).Aberration: Interstitial deletionNegative band
- Kennerknecht I, Barbi G, Greher J.: Diagnosis of retinoblastoma in a presymptomatic stage after detection of interstitial chromosomal deletion 13q. Ophthal. Genet. 15:19-24, 1994. [PubMed: 7953248]46,XY,del(13)(q14.11q22.2).The patient was a newborn with only minor malformations. A multifocal tumor was detected in the right eye and 11 months later contralaterally.Aberration: Interstitial deletionMIM#: 180200Chromosomal Aneuploidy: 13q-Index Terms: RetinoblastomaNegative band
- Kikuchi I, Nagamine M, Ueda A, Mihara K, Seita M, Minoda M: "Chromosomal translocation t(13;16) in a patient with idiopathic hypogonadotropic hypogonadism." Int. Med. 32:465-467, 1993. [PubMed: 8241590]46,XY,der(13)der(16)t(13;16)(q14.11;q24)pat.The 22-year-old patient had no ejaculation. Father had divergent strabismus of the left eye.Aberration: Reciprocal translocationMIM#: 147950,244200,308700Index Terms: Hypogonadotropic hypogonadism ... idiopathic,StrabismusNegative band
- 13q1411 - Chromosomal Variation in Man13q1411 - Chromosomal Variation in Man
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