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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- Chan N P H, Ng M H L, Cheng S H, Lee V, Tsang K S, Lau T T, Li C K.: Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic/leukaemia: a family study using G banding and comparative genomic hybridisation. J. Med. Genet. 39:e79-e79, 2002. [PMC free article: PMC1757232] [PubMed: 12471217]46,XY,der dup(1)(q11q22)mat.The patient was 11 years old.Aberration: DuplicationChromosomal Aneuploidy: 1q+Index Terms: T lymphoblastic lymphoma/leukaemia
- Crandall B, 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. 9346,XX,t(1;11)(q11;p11)pat.Aberration: Whole-arm translocationsVariable band
- Dawson A J, Wickstrom D E, Riordan D, Cardwell S, Casey R, Baldry S, Brown C.: A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q. AJMG DOI=10.1002/ajmg.a.20302, 2003. [PubMed: 14708105]46,X,+r[46%]/45,X[37%]/45,X,dup(1)(q11q21.3)[17%]de novo.ish r(X)(DXZ1+,XIST+).At age of 6 years, the proband was functioning at 2 to 2 1/2 year level in motor, social and language development and more recently functioning in the moderate range of MR.Aberration: DU,RIChromosomal Aneuploidy: 1q+
- Hirschhorn K, Lucas M, Wallace I: Precise identification of various chromosomal abnormalities. Ann. Hum. Genet. 36:375-379, 1973. [PubMed: 4270654]
Lucas M, Wallace I, Hirschhorn K: Recurrent abortions and chromosome abnormalities. J. Obstet. Gynaecol. Br. Commonw. 79:1119-1127, 1972. [PubMed: 4119033]Family Gr(GC641) in this report.46,XX,t(1;13)(1pter->1q11::13p11->13pter;13qter->13p11::1q11->1qter).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Variable band - Kadotani T, Watanabe Y, Kiyuna T, Kawamoto T, Takemura I: A case of partial trisomy for the long arm of chromosome 9. Proc. Jpn. Acad. (Ser. B) 56:157-161, 1980.Patient was 13 years old. He was imbecile, had repeated convulsions, dolicocephaly, blepharophimosis, low-set ears, enlarged bridge of the nose, and small penis.46,XX,ins(1;9)(1pter->1q11::9q12->9q13::1q11->1qter).,46,XY,der(1)ins(1;9)(q11;q12q13)mat.Aberration: Direct insertion between two chromosomesIndex Terms: Blepharophimosis,Convulsion,Ears ... low-set,Penis ... smallVariable band
- Lopez-Gines C, Gil R, Gregori-Romero M, Pellin A: "An azoospermic male with reciprocal translocation t(1;15)(q11;p11)." Hum. Genet. 77:294, 1987. [PubMed: 3679215]46,XY,t(1;15)(q11;p11).Aberration: Reciprocal translocationIndex Terms: AzoospermiaVariable band
- Mertens F, Johansson B, Forslund M, Olsson M, Kristoffersson U: Tandem duplication (1)(q11 to q22) in a male infant with multiple congenital malformations. Clin. Genet. 32:46-48, 1987. [PubMed: 3621653]Patient was 7 months old, with multiple congenital anomalies, growth and psychomotor retardation.46,XY,inv dup(1)(q22 -> q11).Aberration: Inverted insertions within a chromosomeChromosomal Aneuploidy: 1q+Variable band
- Mikkelsen M, Basli A, Poulsen H: Nucleolus organizer regions in translocations involving acrocentric chromosomes. Cytogenet. Cell Genet. 26:14-21, 1980. [PubMed: 7371429]t(1;13)(q11;p12).Aberration: Simple translocationVariable band
- Moreau N, Teyssier M: "Whole arm translocation t(1;13) in an infertile man." J. Med. Genet. 21:234-235, 1984. [PMC free article: PMC1049279] [PubMed: 6748027]46,XY,t(1;13)(q11;p13).Aberration: Simple translocationIndex Terms: Sterility ... maleVariable band
- Palmer C, 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. 119.46,XY,t(1;15)(q11;q26).Aberration: Reciprocal translocationVariable band
- Pettenati M J, Berry M, Shashi V, Bowen J H, Harper M.: Prenatal diagnosis of complete sole trisomy 1q. Prenat. Diag. 21:435-440, 2001. [PubMed: 11438944]Amniotic fluid(15 colonies)=46,XY,der(14)t(1;14)(q11;p11.1).,Cord blood from the fetus=,46,XY,der(14)t(1;14)(q11;p11.1)[3]/46,XY[22].The mother was 28 years old. Ultrasound examination detected several anomalies at 19.9 weeks. The fetal death occurred at 26 weeks gestation.Aberration: Whole-arm translocationsChromosomal Aneuploidy: 1q+
- Say B, Carpenter N J: Report of a case resembling the Proteus syndrome with a chromosome abnormality. AJMG 31:987-989, 1988. [PubMed: 3239588]Blood:mos46,XX[61%]/,46,XX,dir dup(1)(pter->q25::q11->q25::q25->qter)[39%].,In fibroblast culture preparations the proportion was 58% and 42% respectively.Number of dysmorphic features were present in this 3 year old child.Aberration: Inverted insertions within a chromosomeMIM#: 176920Chromosomal Aneuploidy: 1q+Index Terms: Proteus syndromeVariable band
- Stoll C, Pennerath A, Lausecker C: "4p- syndrome in a girl with translocation t(1;4)(q11;p16)mat." Hum. Genet. 56:413-415, 1981. [PubMed: 7239524]46,XX,t(1;4)(q11;p16).Patient died after 6 weeks.Proband had the same chromosome rearrangement but had lost the band 4p16.Aberration: Simple translocationVariable band
- Teyssier M, Moreau N: Etude chez trois sujets steriles de translocations impliquant le chromosome 1. Bull. Assoc. Anat. 66:263-272, 1982. [PubMed: 7150787]t(1;16)(q11;q11).Aberration: Reciprocal translocationIndex Terms: SterilityVariable band
- Verma R S, Peakman D C, Robinson A, Lubs H A: Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities. Cytogenet. Cell Genet. 16:479-486, 1976. [PubMed: 975933]Case No. 2654 in this report.46,XX,t(1;19)(q11;p13).Aberration: Simple translocationVariable band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XX,t(1;11)(q11;p15).Aberration: Reciprocal translocationVariable band
- 01q110 - Chromosomal Variation in Man01q110 - Chromosomal Variation in Man
- g245 [Yersinia phage phiR1-RT]g245 [Yersinia phage phiR1-RT]Gene ID:14295729Gene
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