- Bhasin M K, Foerster W, Fuhrmann W: A cytogenetic study of recurrent abortion. Humangenetik 18:139-148, 1973. [PubMed: 4578384]Case 2 (J. No. 531-72) in this report.46,XX,inv(1)(pq).Aberration: Inversion pericentricIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)No band
- Copel J A, Cullen M, Green J J, Mahoney M J, Hobbins J C, Kleinman C S: The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping. Am. J. Obst. Gynecol. 158:409-413, 1988. [PubMed: 3341415]Case 12 at 21 weeks gestation had complete atrioventricular septal defect. Other anomalies found were trisomies of 9, 13, 18, and 21. 45,X and 47,XXY cases were also found.Index Terms: Congenital heart defects (cardiovascular anomalies)No band
- Francke U: Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. AJHG 24:189-213, 1972. [PMC free article: PMC1762196] [PubMed: 5016511]Case No. I.E.C. (082963) in this report.46,XX,t(1;13)(p;p1),22p-.Aberration: ST,TDNo band
- Gordon R R, Cooke P: Ring-1 chromosome and microcephalic dwarfism. Lancet ii:1212-1213, 1964. [PubMed: 14215563]46,XX,r(1).Aberration: Ring chromosomeIndex Terms: MicrocephalyNo band
- Gray J E, Syrett J E, Ritchie K M, Elliott W D: An interstitial translocation: chromosome No. 1p to 4q. Lancet 2:92-93, 1972. [PubMed: 4113335]46,XX,inv ins(4;1)(q2;p1 or 2 or 3).,The authors hypothesize that the small terminal region (1pter->1p3 of chromosome No. 1) has been lost.Aberration: Inverted insertions within a chromosomeNo band
- Heyn R, Kurczynski E, Schmickel R D: The association of Blackfan-Diamond syndrome, physical abnormalities, and an abnormality of chromosome 1. J. Ped. 85:531-533, 1974. [PubMed: 4443865]46,XX,inv(1)(p-q+).Aberration: Inversion pericentricIndex Terms: Blackfan-Diamond syndromeNo band
- Loiudice T A: Male infertility and 21/1 translocation. Southern Med. J. 70:615-616, 1977. [PubMed: 860153]27 year-old male with infertility.46,XY,t(1p-;21q+).Aberration: Simple translocationIndex Terms: Sterility ... maleNo band
- Magnelli N C: Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV. Clin. Genet. 9:169-182, 1976. [PubMed: 1248176]Case 49 (AF 221140) in this report.46,XX,1qh+,p-.&Deletion of terminal portion of the p arm was found. There is an increased centric heterochromatin in 1q.Aberration: TD,MANo band
- Mikelsaar A V N, Ananjev E V, Gindilis V M: Probable pericentric inversion in chromosome No. 1 in a female child (46,XX,inv(1p+q-)). Humangenetik 9:316-324, 1970. [PubMed: 5449945]46,XX,inv(1)(pq).Aberration: Inversion pericentricNo band
- Newton M S, Cunningham C, Jacobs P A, Price W H, Fraser I A: Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin. Genet. 3:226-248, 1972. [PubMed: 4262353]M. R. C. Registry No. K137-18-67 in this report.46,XY,t(1p-;13q+).&See also 01p130 (Jacobs et al, 1974).Aberration: Simple translocationNo band
- Petrosky D L, Borgaonkar D S: Segregation analysis in reciprocal translocation carriers. AJMG 19:137-159, 1984. [PubMed: 6496566]No band
- Seleznev Y V, Dzenis I G: Longitudinal differentiation of human mitotic chromosomes. Communication II. Analysis of pericentric inversion of the first chromosome in a child with anomalous sex differentiation. Genetika 8:115-119, 1972. [PubMed: 4421586]46,XY/47,XXY,inv(1)(pq).Aberration: Inversion pericentricNo band
- Sharma G, Sobti R C: A case with 46,XY,1r-46,XY,A-,C+, chromosomal constitution. MCN 15:21, 1974.46,XY,r(1).Aberration: Ring chromosomeNo band
- Thompson H: Familial chromosomal translocation with distinctive phenotype due to effective trisomy of No. 9p. BD-OAS XI(No. 5):213-216, 1975. [PubMed: 1218216]46,XX,t(1;9)(1qter -> 1pter::9p11 -> 9pter;9qter -> cen).&"46,XX,der(1)t(1;9)mat."Aberration: Tandem translocationNo band
- Turner J H, Crawford M H, Leyshon W C: Phenotypic-karyotypic localization of the human Rh-locus on chromosome 1. J. Hered. 66:97-99, 1975. [PubMed: 807614]An interstitial deletion has been suggested in this report.Aberration: Interstitial deletionNo band
- Wolf C B, Peterson J A, LoGrippo G A, Weiss L: Ring 1 chromosome and dwarfism - a possible syndrome. J. Ped. 71:719-722, 1967. [PubMed: 6054759]46,XX,r(1).Aberration: Ring chromosomeNo band
Publication Details
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 01p000.