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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- Abuelo D N, Perl D P, Henkle C, Richardson A: Partial trisomy 8(trisomy 8q2106 to 8qter). J. Med. Genet. 14:463-466, 1977. [PMC free article: PMC1013647] [PubMed: 604499]46,XX,t(8;13)(8pter->8q21::13q34->13qter;,13pter->13q34::8q21->8qter).Patient A.A., 210775, in this report.46,XY,-13,+der(13)t(8;13)(q21;q34)mat.,The patient is reported to be more dysmorphic and showed greater developmental retardation than previously reported cases with trisomy of the distal end of 8q. Maternal grandparents were cytogenetically normal.Aberration: Reciprocal translocationIndex Terms: Developmental retardationPositive band
- Barsel G, 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 Nos. 804 and 805.46,XX,t(8;13)(q21;q34)mat.Aberration: Reciprocal translocationPositive band
- Same entry as in 04q320,08p110 (Boue and Gallano, 1984).
- 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(8;15)(q21;q25).Aberration: Reciprocal translocationPositive band
- Bredberg A, Iselius L, Lindgren L, Lundmark K M: "Duplication of part of the long arm of chromosome 8 due to a familial 8;13 translocation." Hereditas 96:105-108, 1982. [PubMed: 7085335]46,XX,t(8;13)(q21;p11).&A newborn boy, 300376, with mental retardation, epilepsy, heart malformation and minor somatic abnormalities was karyotyped, who later died at age of 3 months.&The second pregnancy was detected by amniocentesis to be also that of an aneuploid state and was terminated. Risk is given as 2/18 from collation of data.&"46,XY,-13,+der(13)t(8;13)(13qter -> 13p11::8q21 -> 8qter)mat."Aberration: Simple translocationIndex Terms: Congenital heart defects (cardiovascular anomalies),EpilepsyPositive band
- Cerosaletti K M, Lange E, Stringham H M, Weemaes C M R, Smeets D, Solder B, Belohradsky B H, Taylor A M R, Karnes P, Elliott A, Komatsu K, Gatti R A, Boehnke M, Concannon P.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. AJHG 63:125-134, 1998. [PMC free article: PMC1377248] [PubMed: 9634525]Linkage of NBS to 8q21 was reported in 6/7 families with LOD score of 3.58. The gene is placed between D8S1757 and D8S270. A common founder haplotype was present on 15/18 disease chromosomes from 9/11 NBS families. Data suggests localization between D8S273 and D8S88.MIM#: 251260Index Terms: Nijmegen breakage syndrome (NBS)No band
- Donahue M L, Ryan R M.: Interstitial deletion of 8q21->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. AJMG 56:97-100, 1995. [PubMed: 7747796]Patient JF:46,XX,del(8)(q21->q22).The infant had small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, and prominent, apparently low-set ears.Aberration: Interstitial deletionMIM#: 220200Chromosomal Aneuploidy: 8q-Index Terms: Dandy-Walker ... malformationPositive band
- Fryns J P, Logghe N, van Eygen M, van den Berghe H: Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21). Hum. Genet. 48:127-130, 1979. [PubMed: 457127]
Fryns J P, Logghe N, van Eygen M, van den Berghe H: Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum. Genet. 58:231-232, 1981. [PubMed: 6974680]
Fryns J P, Verresen H, van den Berghe H, van Kerckvoorde J, Cassiman J J: Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl. Humangenetik 24:241-246, 1974. [PubMed: 4140835]Case S.A. (030368) in this report.46,XX,-13,+t(8;13)(q21;p1).&"46,XX,-13,+t(8;13)(13qter -> 13p1::8q21 -> 8qter)."Patient BS in this report.Aberration: Simple translocationMIM#: 150230Index Terms: Langer-Giedion syndromePositive band - Gardner R J M, Docker H E, Fitzgerald P H, Parfitt R G, Romain D R, Scobie N, Shaw R L, Tumewu P, Watt A J: Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 31:108-114, 1994. [PMC free article: PMC1049669] [PubMed: 8182714]Case 1:46,XY,dir dup(8)(q21 -> q22).Case 7:mos46,XX/46,XX,rcp(5;18)(p15;q21).Aberration: DD,RTIndex Terms: MosaicismPositive band
- Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]46,XX,t(8;11)(q21;q21).Aberration: Reciprocal translocationPositive band
- Sachs E S, van Waveren G: Phenotype of partial trisomy 8(q21 to qter) in two unrelated patients with de novo translocation. J. Med. Genet. 18:204-208, 1981. [PMC free article: PMC1048706] [PubMed: 7241543]Patient 1, 060478, in this report.46,XY,-9,+der(9)(8qter->8q21::9p24->9qter).Patient 2, 230379, in this report.46,XY,-8,+der(8)(8qter->8q21::8p23->8qter).,Karyotypes of both parents were normal and there was no reason to doubt paternity.Aberration: Simple translocationPositive band
- Woods C G, Bankier A, Curry J, Sheffield LJ, Slaney S F, Smith K, Voullaire L, Wellesley D.: Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J. Med. Genet. 31:694-701, 1994. [PMC free article: PMC1050079] [PubMed: 7815438]Case 1:46,XX,del(8)(q21q24).Case 4:46,XX,del(8)(q21q23).Aberration: Interstitial deletionChromosomal Aneuploidy: 8q-Index Terms: AsymmetryPositive band
- 08q210 - Chromosomal Variation in Man08q210 - Chromosomal Variation in Man
- 602562211F1 NIH_MGC_76 Homo sapiens cDNA clone IMAGE:4700138 5', mRNA sequence602562211F1 NIH_MGC_76 Homo sapiens cDNA clone IMAGE:4700138 5', mRNA sequencegi|13525120|gnl|dbEST|8240018|gb|BG 0.1|Nucleotide
- 11q210 - Chromosomal Variation in Man11q210 - Chromosomal Variation in Man
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