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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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04q351

4q35.1
  • Same entry as in 04p140 (Battaglia et al, 2002).

  • Barros-Nunez P, Higareda O, Cantu J M: "Translocation 4;13 with adjacent 1 and 3-1 segregations leading to complementary segmental trisomies 13." Ann. Genet. 36:176-180, 1993. [PubMed: 8117066]
    Case 1 (IV-9):
    46,XY,-4,+der(4)t(4;13)(q35.1;q14.1)mat.
    The child died at 11 months of age and had MCA.
    Case 3 (III-27):
    47,XY,-4,+der(13)t(4;13)(q35.1;q14.1)mat.
    A maternal uncle of the propositus was 22 years old with MCA/MR. His fetal hemoglobin was 1.9% and he was azoospermic.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 13q+
    Index Terms: 3:1 segregation
    Negative band
  • Cingoz S, Bisgaard A M, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers H-H, Maas N, Van Buggenhout G, Tommerup N, Tumer Z.: 4q35 deletion and 10p15 duplication associated with immunodeficiency. AJMG Part A: DOI=10.1002/ajmg.a.31431; 140A: 2231-2235, 2006. [PubMed: 16964622]
    Individual II:3=46,XX,t(4;10)(q35.1;p15).,Individuals II:5 and III:1=46,XX,der(4)t(4;10)(q35.1;p15)mat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4q-;10p+
    Index Terms: Immunodeficiency
  • Cody J D, Hale D E.: Precision in phenotyping and genotyping. AJMG DOI=10.1002/ajmg.a.30263, 2004. [PubMed: 15540176]
    Moncla A, Missirian C, Philip N, Marlin S.: Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH. AJMG DOI=10.1002/ajmg.a.30262; 131A:314-317, 2004. [PubMed: 15389711]
    46,XY.ish der(18)t(4;18)(q35.1;q22.3)de novo.,There is duplication of 4q and dletion of 18q
    The 15 year old was referred because of dysmorphic features which were consistent with Rasmussen syndrome: hearing loss with atretic external ear canals and bilateral vertical talus.
    Aberration: ST,DU,TD
    Chromosomal Aneuploidy: 4q+;18q-
    Index Terms: Rasmussen syndrome
  • Same entry as in 04q330 (Curtis M A et al, 1989).

  • Gunn S R, Mohammed M, Reveles X T, Viskochil D H, Palumbos J C, Johnson-Pais T L, Hale D E, Lancaster J L, Hardies L J, Boespflug-Tanguy O, Cody J D, Leach R J.: Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. AJMG DOI=10.1002/ajmg.a.20026;120A:127-135, 2003. [PubMed: 12794705]
    Patient. F.G. was 10 years old.
    46,XY in Bogota, Columbia at birth because of dysmorphic features.,46,XY.ish del(18)(q23)(D18Z1+,MBP-).,46,XY.ish der(18)t(4;18)(q35.1;q22.3).
    Because of the unexplained phenotype, based on karyotypes obtained, repeated cytogenetic evaluations yielded the final karyotypic imbalance.
    Aberration: Simple translocation
    MIM#: 159430
    Chromosomal Aneuploidy: 4q+;18q-
    Index Terms: Central nervous system dysmyelination,Myelin basic protein (MBP) gene
  • Same entry as in 01p131 (Tupler R et al, 1992).

  • Same entry as in 01q421 (Wade J et al, 1989).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106876
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