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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- Arrieta M I, Echarri A, Nunez T, Gil A, Criado B, Martinez B.: Cytogenetics of autosomal fragile sites: a Basque population study. Am. J. Hum. Biol. 8:473-481, 1996. [PubMed: 28557084]Aberration: Fragile sitesIndex Terms: Basque
- Atkin J F, 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. 257.46,XX,t(2;13)(q22;q34)pat.Aberration: Reciprocal translocationPositive band
- De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]t(2;7)(q22;q32).Aberration: Reciprocal translocationPositive band
- Delaroche I, Sabani M, Calabrese G, Mingarelli R, Palka G, Dallapiccola B.: Fetal translocation between chromosomes 2, 18, and 21 resolved by FISH. Prenat. Diag. 15:278-281, 1995. [PubMed: 7784387]Patient F.A.:46,XX,t(2;18;21)(q22;q21;q21).Pregnancy was terminated and the hypoplastic left heart was sonfirmed.Aberration: Complex translocationPositive band
- Farrell S A, Sajoo A, Maybury D, Speevak M D.: Pure partial trisomy of 2q22-q23 secondary to a paternally inherited direct insertion: a rare duplication. Clin. Genet. 64:255-257, 2003. [PubMed: 12919142]46,XY,der(5)ins(5;2)(q22;q23q22)pat.,rev ish der(5)ins(5;2)(q22;q22q23).The patient was 6 months old with MCA.Aberration: Direct insertion between two chromosomesChromosomal Aneuploidy: 2q+
- Kitsiou S, Tsezou A, Bartsocas C S, Tapratzi P, Kourakis G, Papas C B, Dellagrammaticas H D: Complex chromosome rearrangement in a retarded girl with malformations. Ann. Genet. 30:59-61, 1987. [PubMed: 3498433]Patient was 13 months old. Parental karyotypes were normal.46,XX,der(2) der(5)t(2;5)(2pter -> 2q22::5q12 -> 5qter;5pter -> 5q12:),der(3)t(2;3;4)(3pter -> 3q13::4pter -> 4p12::2q22 -> 2qter), der(4)t(4;10)(4qter -> 4p12::10q21 -> 10qter),der(10)t(3;10)(10pter -> 10q12::3q13 -> 3qter).Aberration: Complex translocationPositive 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(2;3)(q22;p26).Aberration: Reciprocal translocationPositive band
- Silengo M, Ferrero G B, Wakamatsu N.: Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. AJMG DOI=10.1002/ajmg.a.20607, 2003. [PubMed: 15103730]46,XY,del(2)(q22-q23).Patient with short segment Hirschsprung disease, microcephaly, pachygyria, and cerebellar hypoplasia, MR, and distinct facial appearance.Aberration: Interstitial deletionMIM#: 605802Chromosomal Aneuploidy: 2q-Index Terms: Pachygyria,Zinc finger homeo box 1B (ZFHX1B) gene
- Sutherland G R, Murch A R, Gardiner A J, Carter R F, Wiseman C: Cytogenetic survey of a hospital for the mentally retarded. Hum. Genet. 34:231-245, 1976. [PubMed: 1002147]Case No. 103/70 in this report.46,XX,t(2;10)(q22;p13).&"46,XX,t(2;10)(2pter -> 2q22::10p13 -> 10pter;10qter -> 10p13::2q22 -> 2qter)."&Both parents have normal karyotypes.Aberration: Reciprocal translocationPositive band
- Warburg M, Bugge M, Brondum-Nielsen K.: Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J. Med. Genet. 32:19-24, 1995. [PMC free article: PMC1050173] [PubMed: 7897621]Case 2 (120973):46,XY,t(2;3)(2pter->2q22::3q24->3qter;3pter->3q22::2q22->2qter).The patient was 17 years old.Aberration: Simple translocationMIM#: 110100Index Terms: BPES, Blepharophimosis, epicanthus inversusPositive band
- 02q220 - Chromosomal Variation in Man02q220 - Chromosomal Variation in Man
- S41 family peptidase [Niallia sp. Man26]S41 family peptidase [Niallia sp. Man26]gi|2231869954|gnl|PRJNA799131|L8T27 75|gb|UPO89574.1|Protein
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