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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Gradek G A, Kvistad P H, Houge G.: Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism. Europ. J. Med. Genet. 49: 292-297, 2006. [PubMed: 16829350]46,XY,tan r(8) rev ish dim (p23.2pter)(q24.3qter)/45,XY,-8/46,XY,r(8)/46,XYThe patient was 20 years old and IQ of 70 (WISC-R)..Degree of mosaicism varies in different tissues.Aberration: Ring chromosomeChromosomal Aneuploidy: 8p-;8q-
- Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K-i, Phta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. : Duplication of 8p23.2: a benign cytogenetic varaint? AJMG DOI=10.1002/ajmg.10584; 111:285-288, 2002. [PubMed: 12210324]The duplication of band 8p23.2 is described in 7 individuals from 4 families, and in three of 50 normal individuals.46,XY,dup(8)(p23.2p23.2).All four probands had some phenotypic but inconsistent changes, because of these findings it is considered that dup(8)(p23.2) is likely to be normal variant.This duplication involves the same 2.5-Mb segment.Aberration: DU,MAChromosomal Aneuploidy: 8p+
- Same entry as in 08p21.2 (Hoo et al, 1995).
- Saura R, Longy M, Serville F D, Chokairi O, Froute M F: "Abnormal phenotype in a child with a ""balanced"" translocation 8/12 in mosaic state." AJMG 28:1021-1023, 1987. [PubMed: 3688015]Patient A.L.B.''s psychomotor and growth development was normal at 6 months of age.mos46,XY/46,XY,t(8;12)(p23.2;q13.3).Aberration: Reciprocal translocationPositive band
- Schonberg S, Golbus M S, 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. 1275.46,XY,inv(8)(p23.2q22)mat.Aberration: Inversion pericentricPositive band
- Turleau C, de Grouchy J: Trisomy 18qter and trisomy mapping of chromosome 18. Clin. Genet. 12:361-371, 1977. [PubMed: 589857]46,XY,t(8;18)(p232;q123).,"46,XX,der(8)der(18)t(8;18)(p232;q123)pat."Patient 1 (observation No. 7136) in this report.46,XX,der(8)t(8;18)(p232;q123)mat.&"46,XX,der(8)t(8;18)(8qter -> 8p232::18q123 -> 18qter)mat."Aberration: Simple translocationPositive band
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