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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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  • Odell J M, Siebert J R, Bradley C, Salk D J: "Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base." AJMG 27:687-692, 1987. [PubMed: 3631140]
    Patient died 4 days after birth. A sib and grandmother were also carriers of the translocation.
    46,XX,t(7;11)(p11.1;p15.5)mat.&"46,XX,-11,+der(11),t(7;11)(11qter -> 11p155::7p111 -> 7pter)mat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7p+
    Variable band
  • Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U, von Eggeling F, Liehr T.: First patient with trisomy 21 accompanied by an additional der(4)(:p11->q11:) plus partial uniparental disomy 4p15-16. AJMG DOI=10.1002/ajmg.10830; 116A: 26-30, 2003. [PubMed: 12476447]
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    Case 13:
    Peripheral blood=47,XX,+mar[26]/46,XX[14].cenM-FISH r(7)r(7;7)de novo-2 subclones.,SubcenM-FISH 7q+;pcp7q+;cep7+r(7)(::p11.1->q11.21::)[15].,7q++;pcp7q++;cep7++ r(7;7)(::p11.1->q11.21::p11.1->q11.21::)[4].,7q++++;pcp7q++++;cep7++++r(7;7;7;7)(::p11.1->q11.21::p11.1->q11.21::p11.1->q11.21::p11.1->q11.21::)[1]{3 subclones}
    Aorta insufficiency, aorta root ectasia; artial septal defect,side ventricles enlarged with plexus cyst, dysacusis on both ears.
    No UPD 7.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 7q+
    Index Terms: Small supernumerary marker chromosomes (SMC)
  • von Beust G, Sauter S M, Liehr T, Burfeind P, Bartels I, Starke H, von Eggeling F, Zoll B.: Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay. AJMG 137A: 59-64, 2005. [PubMed: 16007665]
    47,XX,+r.ish r(7)(::p11.1->q11.21::).ish 7p11.1-q11.1(D7Z1x1),,7p11.2(bA10F11x1),7q11.21(bA3N2x1)[15]/r(7;7)(::p11.1->q11.21::p11.1->q11.21::).ish 7p11.1-q11.1(D7Z1x2),7p11.2(bA10F11x2),,7q11.21(bA3N2x2)[4]/r(7;7;7;7)(::p11.1->q11.21::p11.1->q11.21::q11.21->p11.1::q11.21->p11.1),ish 7p11.1-q11.1(D7Z1x4),,7p11.2(bA10F11x4),7q11.21(bA3N2x4)[1]/46,XX[10].
    Very interesting case report of a child with MCA and r(7).
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 7p and q+
    Index Terms: 7 tetrasomy & hexasomy
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106252
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