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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-.

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

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  • Same entry as in 04q220,04q280,06q260,07q340,10q250,13q330 (Boue and Gallano, 1984).
  • Echenne B, Emberger J M, Florensa G, Astruc J, Brunel D: Trisomie 15 partielle 47,XY,+del(15)(q21). Pediatrie 36:551-556, 1981. [PubMed: 7322769]
    Positive band
  • Formiga L de F, Poenaru L, Couronne F, Flori E, Eibel J L, Deminatti M M, Savary J B, Lai J L, Gilgenkrantz S, Pierson M: Interstitial deletion of chromosome 15: two cases. Hum. Genet. 80:401-404, 1988. [PubMed: 3198122]
    Case 1, LD
    Hex A values were half the normal suggesting location of the structural gene in the deleted segment.
    Case 2, JB
    Aberration: Interstitial deletion
    MIM#: 272800
    Chromosomal Aneuploidy: 15q-
    Positive band
  • Fryns J P, de Muelenaere A, van den Berghe H: Interstitial deletion of the long arm of chromosome 15. Ann. Genet. 25:59-60, 1982. [PubMed: 6979302]
    Patient L.--C. was 14 years old.
    Aberration: Interstitial deletion
    Positive band
  • Hongell K, Iivanainen M: Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations. Clin. Genet. 14:229-234, 1978. [PubMed: 699362]
    47,XX,+der(15),t(15;D or G)(q21;q11).&Extra chromosome was identified as a deleted 15 del(15)(q21) with C-band positive heterochromatin and satellite-like appendages to the distal end of the long arm. She had small head, a high forehead, oblique palpebral fissures, bilateral enophthalmus, clinodactyly and simple dermatographic pattern.
    Aberration: Simple translocation
    Index Terms: Clinodactyly,Eye ... enophthalm(us)(ia),Forehead ... high, convex,Head ... small deformities,Palpebral fissures ... oblique
    Positive band
  • Hsu L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 1030.
    Aberration: Reciprocal translocation
    Positive band
  • Nopola-Hemmi J, Taipale M, Haltia T, Lehesjoki A-E, Voutilainen A, Kere J.: Two translocations of chromosome 15q associated with dyslexia. J. Med. Genet. 37:771-775, 2000. [PMC free article: PMC1757170] [PubMed: 11015455]
    Family A: Three individuals have reading disability, and one, II-3, does not.
    I-1=46,XY,t(2;15)(q11;q21).,II-1, II-2, II-3=46,XX or XY,der t(2;15)pat.
    Family B: Only one, II-1 has dyslexia.
    I-1=46,XY,t(2;15)(p13;q22).,II-1, II-2, II-3=46,XX or XY,der t(2;15)pat.
    Aberration: Reciprocal translocation
    Index Terms: Dyslexia
    No band
  • Pfeiffer R A, Kessel E K: Partial trisomy 15q1. Hum. Genet. 33:77-83, 1976. [PubMed: 939561]
    Case 1 (G.G. 631105) in this report.
    47,XY,+der t(15;22)(q21;q11)mat.&"47,XY,+der t(15;22)(15pter -> 15q21::22q11 -> 22pter)mat."&Both parents have normal karyotypes. No evidence of a second centromere on the translocation chromosome.
    Aberration: Reciprocal translocation
    Positive band
  • Same entry as in 03q270,11q110,12q140 (Warburton D, 1991).
  • Yip M Y, Parsons A, Hulten M A: A de novo tandem duplication 15(q21->qter) mosaic. Clin. Genet. 22:1-6, 1982. [PubMed: 7172470]
    Patient (010980) had multiple congenital anomalies.
    mos46,XY/46,XY,tan dup (15)(q21 -> qter).
    Aberration: Duplication
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106040
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