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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- Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]Patient I.P. No. 18082 in this report.46,XX,t(4;22)(p153;q112).&"46,XX,t(4;22)(4qter -> 4p153::22q112 -> 22qter;22pter -> 22q112::4p153 -> 4pter)."&"47,XX,+der(22)t(4;22)(p153;q112)mat."Aberration: Reciprocal translocationPositive band
- Bauer K, Howard-Peebles P N, Keele D, Friedman J M: "Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation." AJMG 21:351-356, 1985. [PubMed: 4014316]46,XX,t(4;21)(p15.3;q11.2).&46,XY,inv(9)(p11q13).&"45,XY,inv(9)(p11q13)pat,-4,-21,+der(4),t(4;21)(4qter -> 4p15.3::21q11.2 -> 21qter)mat."Aberration: Simple translocationIndex Terms: Wolf-Hirschhorn syndromePositive band
- 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(4;18)(p153;q23).Aberration: Reciprocal translocationPositive band
- Cotter P D, Kaffe S, Li L, Gershin I F, Hirschhorn K.: Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. AJMG 102:76-80, 2001. [PubMed: 11471177]46,XX,der(4)del(4)(p16.3)dup(4)(p16.3p15.3).ish der(4)(wcp4+,D4F26-,D4S96+).The proposita was a 4 1/2 year old girl with MCA, seizure disorder, and severe growth and MR.Aberration: DU,TDChromosomal Aneuploidy: 4p-;4p+No 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. 1232.46,XX,inv(4)(p153q12)mat.Aberration: Inversion pericentricPositive band
- Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N.: Subtelomeric specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J. Med. Genet. 41:130-136, 2004. [PMC free article: PMC1735677] [PubMed: 14757861]WHS1=46,XY.ish der(4)t(4;10)(p16;q26)de novo.,WHS2,3,4 and 5=46,X(X)or(Y),der(4)t(4;5)(p15.3;q35.1)pat.,Father of WHS2=46,XY,t(4;5)(p15.3;q35.1).,WHS3Aberration: Reciprocal translocationChromosomal Aneuploidy: 4p-;10q+
- Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Dune M, Kolvraa S, Lundsteen C.: Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. AJMG 127A:111-117, 2004. [PubMed: 15108196]
Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]Case No. 35=46,XX,der(4)t(4;8)(p15.3;p22)pat.,dim(4p15.3->pter)enh(8p22->pter).Case ascertained prenatally.Aberration: Reciprocal translocationChromosomal Aneuploidy: 4p-;8p+ - Malpuech G, Mattei J F, Gaulme J, Palcoux J B, Lesec G, van Lieferinghen Ph: Association, chez le meme sujet, d''une deletion du bras court du chromosome 4 (4p-) et d''un deficit complet en parahydroxyphenylpyruvate oxydase hepatique (tyrosinase). J. Genet. Hum. 29:455-461, 1981. [PubMed: 7328420]Patient, Isabelle D., died.46,XX,del(4)(qter -> p153:).Aberration: Terminal deletionPositive band
- Shapiro L R, 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. 500 and 501.46,XY,t(4;17)(p153;q12)mat.Aberration: Reciprocal translocationPositive band
- Smith A, Watt A J, Cummins M, Gardner R J M, Wilson M: A small one-band paracentric inversion inv(4)(p15.3p16.3). Ann. Genet. 35:161-163, 1992. [PubMed: 1466565]46,XY,der inv(4)(p15.3p16.3)mat.Maternal grandfather was also a carrier.Aberration: Inversion paracentricPositive band
- Stengel-Rutkowski S, Warkotsch A, Stene J: "Familial Wolf''s syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates." Clin. Genet. 25:500-521, 1984. [PubMed: 6539659]46,XX,t(4;8)(p15.3;p22).&"46,XY,der(4)der(8)t(4;8)(p15.3;p22)mat."&"46,XY,-4,+der(4)t(4;8)(4qter -> 4p15.3::8p22 -> 8pter)mat."Aberration: Simple translocationIndex Terms: Wolf-Hirschhorn syndromePositive band
- Tengstrom C, Autio S: Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding. Clin. Genet. 31:53-60, 1987. [PubMed: 3568434]Patient N.M. was 13 years old with multiple anomalies.46,XX,4p-\?del(4)(p16p15.3)\.Aberration: Interstitial deletionPositive band
- Tupler R, Bortotto L, Buhler E M, Alkan M, Malik N J, Bosch-Al Jadooa N, Memo L, Maraschio P: Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. J. Med. Genet. 29:53-55, 1992. [PMC free article: PMC1015823] [PubMed: 1552546]Cases 1 to 5.46,XX or XY,del(4)(qter -> p15.3:)de novo.Aberration: Terminal deletionChromosomal Aneuploidy: 4p-Index Terms: Wolf-Hirschhorn syndromePositive band
- 04p153 - Chromosomal Variation in Man04p153 - Chromosomal Variation in Man
- Lactiplantibacillus plantarum strain ZYL14 16S ribosomal RNA gene, partial seque...Lactiplantibacillus plantarum strain ZYL14 16S ribosomal RNA gene, partial sequencegi|2661126177|gb|PP215884.1|Nucleotide
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