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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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  • Benzacken B, Carbillon L, Dupont C, Siffroi J P, Monier-Gavelle F, Bucourt M, Uzan M, Wolf J P.: Lack of submicroscopic rearrangements involving telomeres in reproductive failures. Hum. Reprod. 17:1154-1157, 2002. [PubMed: 11980732]
    46,XY,der t(8;20)(p10;q10)mat.
    The mother was 27 years old and had 3 miscarriages.
    Aberration: Reciprocal translocation
    Index Terms: Reproductive failures
  • Blennow E, Anneren G, Bui T H, Berggren E, Asadi E, Nordenskjold M: Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). AJHG 53:433-442, 1993. [PMC free article: PMC1682354] [PubMed: 8328459]
    Blennow E, Brondum-Nielsen K, Telenius H, Carter N P, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.: Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. AJMG 55:85-94, 1995. [PubMed: 7702104]
    Case C:
    46,XX/47,XX,+r(8)de novo, 40% in blood & 72% in skin.
    The one year old patient has dysmorphic features, motor de velopment is retarded but mental development is norma
    Aberration: Ring chromosome
    No band
  • Butler M G, Roback E W, Allen G A, Dev V G.: Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies. AJMG 57:494-495, 1995. [PubMed: 7677159]
    mos46,XX(13 cells)/47,XX,+r(8)(9 cells)de novo.
    Patient was followed till age of 6 months.
    Aberration: Ring chromosome
    No band
  • Carter N P, Ferguson-Smith M A, Perryman M T, Telenius H, Pelmear A H, Leversha M A, Glancy M T, Wood S L, Cook K, Dyson H M, Ferguson-Smith M E, Willatt L R: Reverse chromosome pairing: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J. Med. Genet. 29:299-307, 1992. [PMC free article: PMC1015948] [PubMed: 1583656]
    Case 5.
    Aberration: Duplication
    No band
  • Demori E, Devescovi R, Gambel Benussi D, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V. : Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report. AJMG DOI=10.1002/ajmg.a.20677; 130A:288-294, 2004. [PubMed: 15378554]
    Blood=46,XY[21]/47,XY,+r[29], skin=46,XY[68]/47,XY,+r[15].,46,XY/47,XY,+r(8)(::p10->p23.1::).
    The 3 year old patient was referred to pediatric neurologist due to developmental delay and autistic-like behavioral features.
    The ring chromosome probably originated during maternal meiosis II and corresponds to 40 cM from the centromere.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 8p+
    Index Terms: Supernumerary r(8) chromosome
  • Kotzot D, Holland H, Kohler M, Froster U G.: A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, flourescence in situ hybridisation, and spectral karyotyping. Ann. Genet. 44:135-138, 2001. [PubMed: 11694225]
    The couple had 5 spontaneous abortions and a 10 year old healthy boy.
    SKY technique was used to identify the karyotypic abnormality.
    Aberration: Complex translocation
    Index Terms: SKY
  • Langer S, Fauth C, Rocchi M, Murken J, Speicher M R.: AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum. Genet. 109:152-158, 2001. [PubMed: 11511920]
    Chromosomal Aneuploidy: 8p and q+
    Index Terms: SMC,AcroM
  • Lopez-Pajares I, Delicado A, Lapunzina P, Mori M A, de Torres M L, Aso S, Garcia Sanchez P.: Tetrasomy 8P: discordance of amniotic fluid and blood karyotypes. AJMG DOI=10.1002/ajmg.a.10988; 118A:353-357, 2003. [PubMed: 12687667]
    The patient presented with ventricular septal defect (VSD), agenesis of the corpus callosum, facial dysmorphism, and several other malformations observed at necropsy (death after 27 days).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
  • Napoleone R M, Varela M, Andersson H C.: Complex congenital heart malformations in mosaic tetrasomy 8p: case report and review of the literature. AJMG 73:330-333, 1997. [PubMed: 9415694]
    Blood=mos47,XY,+i(8p)(p10)[88%]/46,XY[12%] at birth.
    The infant had MCA, respiratory distress and complex congenital heart defects.
    At 5 and 12 months, the blood cultures showed a decreasing percentage (66% and 54% respectively) and skin fibroblasts had a normal karyotype.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 8p+
  • Rosenthal I M, Krompotic E, Bocian M, Szego K: Trisomy of the short arm of chromosome 8: Association with translocation between chromosomes 8 and 22. 46,XY,22-,t(8p22q)+. Clin. Genet. 4:507-516, 1973. [PubMed: 4787842]
    Aberration: Simple translocation
    No band
  • Wood E, Dowey S, Saul D, Cain C, Rossiter J, Blakemore K, Stetten G.: Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH. AJMG Part A: 146A:764-769, 2008. [PubMed: 18241063]
    47,XY,+del(8)(p10)[14].ish del(8)(p11.1)(D8S504-,D8Z2+,VIJyRM2057+,wcp8+)/46,XY[10].
    Pregnancy was terminated.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 8q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106649
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