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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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  • Bonaglia M C, Giorda R, Cavallini A, Pra, paro T, Rocchi M, Borgatti R, Zuffardi O.: Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22 telomere: a genomic polymorphism? J. Med. Genet. 40:e94, 2003. [PMC free article: PMC1735572] [PubMed: 12920086]
    46,XY,ish der(22)t(22;20;6)(q13.33;q13.33;p25.3),(D22S1726+;RH38993+;RH12503+)pat.
    The patient, 4 tears old, had bilateral chorioretinal coloboma and grade IV bilateral vesicoureteric reflux (VUR) and a normal IQ.
    The father and the patient were carriers of the unusual chromosome 22. Hence, it is considered a polymorphism and not connected with the patient''s dysmorphism.
    Aberration: MA,ST
    MIM#: 120330
    Chromosomal Aneuploidy: 6p+;20q+
    Index Terms: Papillorenal syndrome
  • Hockner M, Utermann B, Erdel M, Fauth C, Utermann G, Kotzot D.: Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise normal woman. AJMG Part A: DOI=10.1002/ajmg.a.32251, 2008. [PubMed: 18302251]
    46,XXr(6)(p25.3q27)dn[16]/47,XX,+r(6),+r(6)[1]/45,XX,-6[2].ish r(6)(p25.3q27)(6ptel48+,TTAGGG-,6qtel54/yRM2158+,TTAGGG-).
    Patient was 25 years old with short stature, normal psychomotor development, and only minor dysmorphisms. She delivered a normal male child at term.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 6p-;6q-
  • Smeets D F C M, Hamel B C J, Nelen M R, Smeets H J M, Bollen J H M, Smits A P T, Ropers H H, Van Oost B A: Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. NEJM 326:807-811, 1992. [PubMed: 1538725]
    Angelman syndrome was diagnosed in this 4 1/2 year old.
    45,XX,-6,-15,+der(6)t(6;15)(6qter -> 6p25.3::15q13.1->15qter).
    There is deletion of all paternal alleles of proximal 15q.,Prader-Willi syndrome was identified in this 23 month old.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 15q-
    Index Terms: Angelman syndrome,Prader-Willi ... Critical Region (PWCR)
    Negative band
  • Mirza G, Davies A F, Ragoussis J.: A FISH probe specific for the telomeric region of 6p. Cytogenet. Cell genet. 77:175, 1997. [PubMed: 9284907]
    The 6k23 clone is distal to PAC 3612 and is available from the authors.
    No band
  • Nur Semerci C, Cinbis M, Ullmann R, Steininger A, Bahce M, Yagci B, Ozden S, Sabir N, Gumus D, Tepeli E, Arteaga J, Mutchinick O M.: Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: phenotypic overlap with Mutchinick syndrome. AJMG Part A: DOI=10.1002/ajmg.a.33382;152A:1724-1729, 2010. [PubMed: 20578131]
    Aberration: Reciprocal translocation
    MIM#: 249630
    Chromosomal Aneuploidy: 6p-;12q+
    Index Terms: Mutchinick syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105848


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