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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- Bowen P, Fitzgerald P H, Gardner R J M, Biederman B, Veale A M O: "Duplication 8q syndrome due to familial chromosome ins (10;8)(q21;q212q22)." AJMG 14:635-646, 1983. [PubMed: 6846399]Risk for balanced carrier to have an offspring with dup 8q212->8q22 is about 0.31.,46,XX,ins(10;8)(q21;q212q22).,46,XY,-10,+der(10)ins(10;8)(q21;q212q22).Aberration: Direct insertion between two chromosomesNegative band
- Daniel A, 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. 1760.46,XY,inv(8)(q21.2q22.3)mat.Aberration: Inversion paracentricNegative band
- Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]Case 7.46,XX,inv(8)(q21.2q22)pat.Aberration: Inversion paracentricNegative band
- Rivera H, Rodriguez R M, Plascencia M L, Martinez Y Martinez R, Nazara Z, Cantu J M: Del (8)(q212q2200) de novo in a boy without Langer-Giedion syndrome. J. Genet. Hum. 31:413-418, 1983. [PubMed: 6674417]Parental karyotypes were normal.&46,XY,del(8)(pter -> q212::q22 -> qter).Aberration: Interstitial deletionIndex Terms: Langer-Giedion syndromeNegative band
- Tupler R, Pagliano E, Barbierato L, Lanzi G, Maraschio P, Fazzi E.: Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin. AJMG 62:160-163, 1996. [PubMed: 8882396]Patient A.G., 27071991.46,XX,dup(8)(pter->q21.2::q22.3->q21.2::q22.3->qter).The patient was 31 months old.Analysis with D8S85 markers revealed the presence of three alleles at this locus and demonstrated its maternal origin.Aberration: DuplicationChromosomal Aneuploidy: 8q+Negative band
- 08q212 - Chromosomal Variation in Man08q212 - Chromosomal Variation in Man
- Nucleotide Links for PopSet (Select 1391206836) (104)Nucleotide
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