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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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  • Artifoni L, Baccichetti C, Piovan E, Anglani F, Lenzini E, Goppion G, Tenconi R: Replication patterns of human X isochromosomes by high-resolution banding. Cytogenet. Cell Genet. 36:649-651, 1983. [PubMed: 6661931]
    Aberration: Isochromosome
    Negative band
  • Bawle E, Tyrkus M, Lipman S, Bozimowski D: Aarskog syndrome: full male and female expression associated with an X-autosome translocation. AJMG 17:595-602, 1984. [PubMed: 6711610]
    Glover T W, Verga V, Rafael J, Barcroft C, Gorski J L, Bawle E V, Higgins J V: Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323. Hum. Mol. Genet. 2:1717-1718, 1993. [PubMed: 8268928]
    Patient CP.
    Both mother and son exhibited full expression of Aarskog syndrome and were carriers of the translocation.
    The revised breakpoint coincides with linkage data and is a candidate region for the gene locus.
    PP (mother of CP).
    Aberration: Reciprocal translocation
    MIM#: 305400
    Index Terms: Aarskog syndrome
    Negative band
  • Crolla J A, Gilgenkrantz S, de Grouchy J, Kajii T, Bobrow M: Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromeric-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. Hum. Genet. 81:269-272, 1989. [PubMed: 2921037]
    Hodgson S V, Neville B, Jones R W A, Fear C N, Bobrow M: Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum. Genet. 71:231-234, 1985. [PubMed: 4065895]
    Case 2 was 5 years old.
    Aberration: Simple translocation
    MIM#: 308300
    Negative band
  • Fukushima Y, Kuroki Y, Iizuka A: Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13. Jpn. J. Hum. Genet. 32:91-96, 1987. [PubMed: 3437574]
    Kajii T, Tsukahara M, Fukushima Y, Hata A, Matsuo K, Kuroki Y: "Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma." Ann. Genet. 28:219-223, 1985. [PubMed: 3879432]
    Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, Okamoto N, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y.: The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenet. Genome Res. 99:276-284, 2003. [PubMed: 12900575]
    Case 1=45,X[27%]/46,X,r(X)(p11.21q12)pat[73%].,Case 2=45,X[13%]/46,X,r(X)(p11q21.1)pat[87%].,Case 3=45,X[10%]/46,X,r(X)(p11.21q21.1)mat[90%].,Case 4=45,X[40%]/46,X,r(X)[60%].
    Phenotypes ranged from moderate (case 1) to extremely severe (cases 1 & 2).
    Patient was 15 months old; parental karyotypes were normal.
    Case 5 was 4 years 6 months old.
    Aberration: RI,RT
    MIM#: 308300
    Index Terms: Retinoblastoma
  • Gilgenkrantz S, Tridon P, Pinel-Briquel N, Beurey J, Weber M: "Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?" Ann. Genet. 28:90-92, 1985. [PubMed: 3876069]
    Sefiani A, Heuertz S, Turleau C, Thibaud D, de Grouchy J, Hors-Cayla M C: Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations. Ann. Genet. 32:149-151, 1989. [PubMed: 2817774]
    Patient S.M.,000470.
    Aberration: Simple translocation
    MIM#: 308300
    Negative band
  • Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T.: Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature. AJMG 86:44-50, 1999. [PubMed: 10440827]
    The 10 month old patient showed poor weight gain, developmental retardation, and minor anomalies including pigmentary dysplasia (hypomelanosis of Ito).
    There was random inactivation of the X chromosomes.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xp+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105719


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