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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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  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(4;5)(q22;q35); t(4;15)(q22;q21); t(4;16)(q22;p13); t(4;16)(q22;q23).
    Aberration: Reciprocal translocation
    Positive band
  • Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]
    Family and Pedigree No. 4
    Dysmorphic ten year old boy with another translocation.
    Aberration: Reciprocal translocation
    Positive band
  • Butler L J, Palmer A V, Spencer T, Tabios-Broadway R, Wall W J: A new interstitial deletion of chromosome No. 4 del(4)(q22::q25). Clin. Genet. 31:199-205, 1987. [PubMed: 3474090]
    Patient died after 3 months and had multiple congenital anomalies including epicanthus, frontal bossing, short sternum, polydactyly, and renal cysts.
    46,XX,del(4)(q22q25)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4q-
    Index Terms: Epicanthal folds,Polydactyly,Sternum ... short
    Positive band
  • Durban M, Benet J, Boada M, Fernandez E, Calafell J M, Lailla J M, Sanchez-Garcia J F, Pujol A, Egozcue J, Navarro J.: PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis. Hum. Reprod. Update 7:591-602, 2001. [PubMed: 11727868]
    Patient H:
    Aberration: Reciprocal translocation
    Index Terms: PGD
  • Koppitch F C, Ramahi A, Quereshi F, Budev H, Perrin E, Evans M I: Prenatal diagnosis of and midtrimester pathology with karyotype 46,XY,del(4)(q22q26). A case report. J. Reprod. Med. 35:182-186, 1990. [PubMed: 2304042]
    46,XY,del(4)(pter -> q22::q26 -> qter)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 4q-
    Positive band
  • Shapiro L R, 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. 475.
    Aberration: Reciprocal translocation
    Positive band
  • Simola K O, Knuutila S, Kaitila I, Pirkola A, Pohja P: "Familial aniridia and translocation t(4;11)(q22; p13) without Wilms tumor." Hum. Genet. 63:158-161, 1983. [PubMed: 6301974]
    Yang-Feng T L, Bruns G, Carroll A J, Simola K O J, Francke U: Localization of the LDHA gene to 11p14 to 11p15 by in situ hybridization of an LDHA cDNA probe to two translocations with breakpoints in 11p13. Hum. Genet. 74:331-334, 1986. [PubMed: 3793094]
    Aberration: Simple translocation
    Index Terms: Aniridia
    Positive band
  • Skovby F, Niebuhr E: Presumably balanced translocations involving the same band of chromosome No. 4 found in two mentally retarded dysmorphic individuals. Ann. Genet. 17:243-249, 1974. [PubMed: 4141591]
    46,XY,t(4;9)(q22;p24).&"46,XY,t(4;9)(4pter -> 4q22::9p24 -> 9pter;9qter -> 9p24::4q22 -> 4pter)."
    Case 1 ALK (010844) in this report.
    Aberration: Reciprocal translocation
    Positive band
  • Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]
    Case 6.
    Aberration: Simple translocation
    Positive band
  • Vogel W, Siebers J W, Gunkel J, Haas B, Knorr-Gartner H, Niethammer D G, Noel B: Phenotypic variation in partial trisomy 4q. Humangenetik 28:103-112, 1975. [PubMed: 1150265]
    Case III, M.C. (030267) in this report.
    46,XX,inv ins(4)(q34q22).&46,XX,inv ins(4)(pter -> q34::q34 -> q22::q34 -> qter).&This patient is trisomic for chromosome 4 segment q22 -> q34.
    Aberration: Inverted insertions within a chromosome
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105827


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