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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Same entry as in 09q341 ().

  • Faivre L, Van Kien P K, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf J-E, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau J-D, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F.: de novo 15q21.1q21,1 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome. Europ. J. Med. Genet. 53: 208-212, 2010. [PubMed: 20478419]
    46,XX.ish del(15)(q21.1q21.2) 2.97 Mb
    Patient was 16 years old.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 15q-
    Index Terms: Marfan syndrome
  • Same entry as in 15q140 (Herr et al, 1983).

  • Milewicz D M, Duvic M: Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the Fibrillin gene on chromosome 15. AJHG 54:447-453, 1994. [PMC free article: PMC1918129] [PubMed: 8116614]
    Patient earlier reported by Gross et al (1989) in Pediatrics 84:83-89.
    3-bp insertion betweeen nucleotides 480-481 or 481-482 of the fibrillin DNA inserting a cystein between amino acids 160 and 161 was identified.
    Aberration: Direct insertions within a chromosome
    MIM#: 134797
    Chromosomal Aneuploidy: 15q+
    Index Terms: Marfan syndrome ... severe neonatal
    Positive band
  • Same entry as in 05q313 (Yip M Y et al, 1987).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106775
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