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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- Bass H N, Sparkes R S: "Two balanced translocations in three generations of a pedigree: t(7;10)(q11;q22) and t(14;21)(14qter to cen to 21qter)." J. Med. Genet. 16:215-218, 1979. [PMC free article: PMC1012694] [PubMed: 157395]45,XX,t(7;10)(q11;q22)t(14q21q).&"45,XY,t(7;10)(q11;q22)t(14q21q)mat and pat."&45,XX and XY,t(14q21q)pat.&46,XY,-14,+t(14q21q)mat.Aberration: Double translocationNo 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(7;8)(q11;p11); t(7;10)(q11;p21); t(7;13)(q11;q12); inv(7)(q11q22).Aberration: IP,RTNo band
- 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. 757.46,XX,t(7;15)(q11;q24).Aberration: Reciprocal translocationNo band
- Crawfurd M d''A, Kessel I, Liberman M, McKeown J A, Mandalia P Y, Ridler M A C: Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. J. Med. Genet. 16:453-460, 1979. [PMC free article: PMC1012593] [PubMed: 537019]46,XY,del(7)(q11q21),t(7;8)(7pter -> 7q11:;8pter -> 8q24::7q21 -> 7qter),15p+,22p.&Parents had normal karyotypes.Aberration: Interstitial deletionNo band
- Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]Registry No. 382/77 in this report.46,XX,t(7;12)(q11;p13).Aberration: Reciprocal translocationNo band
- Diedrich U, Hansmann I, Janke D, Opitz O, Probeck H D: Chromosome anomalies in 136 couples with a history of recurrent abortions. Hum. Genet. 65:48-52, 1983. [PubMed: 6642507]46,XX,rcp(7;22)(q11;q13).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)No band
- Gibson J, Ellis P M, Forsyth J S: Interstitial deletion of chromosome 7: a case report and review of the literature. Clin. Genet. 22:256-265, 1982. [PubMed: 6758992]Patient S was 2 years old.46,XY,del(7)(q11 -> q212).Aberration: Interstitial deletionNo band
- Gorski J L, Emanuel B S, Zackai E H, Mennuti M T: Complex chromosomal rearrangement and multiple spontaneous abortions. Hum. Genet. 74:326, 1986. [PubMed: 3781562]Three pregnancies were lost; sibs and mother were normal karyotypically.46,XX,t(7;10;21)(q11;q22;q22).&"46,XX,t(7;10;21)(7pter -> 7q11::10q22 -> 10qter;10pter -> 10q22::21q22 -> 21qter;21pter -> 21q22::7q11 -> 7qter)."Aberration: Complex translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)No band
- Hoo J J, Lorenz R, Fischer A, Fuhrmann W: Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion. Hum. Genet. 62:113-116, 1982. [PubMed: 7160842]46,XX,inv(7)(q11q22).Patient N.S. died after 7 months.46,XX,inv(7)dup q(q11.22 -> q11.23)mat.Aberration: Inversion paracentricNo band
- Jackson 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. 750.46,XX,t(7;14)(q11;q32)pat.Aberration: Reciprocal translocationNo band
- Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]M.R.C. Repository No. K78-153-70 in this report.46,XX,t(7;11)(q11;q25).Aberration: Simple translocationNo band
- Kadotani T, Watanabe Y: A case of reciprocal translocation between the long arm of No. 7 and the long arm of No. 14 chromosome. Proc. Jpn. Acad. (Ser. B) 60:62-64, 1984.46,XY,rcp(7;14)(q11;q22).Aberration: Reciprocal translocationNo band
- Kardon N B, Pollack L, Davis J G, Broekman A, Krauss M: De novo duplication of the 7q11 to 7q22 region. J. Med. Genet. 20:471-473, 1983. [PMC free article: PMC1049188] [PubMed: 6655677]46,XY,dup(7)(pter -> q22::q11 -> q22::q22 -> qter).Patient, 130278, was 4 years old and had multiple congenital anomalies.Aberration: DuplicationNo band
- Klep-de-Pater J M, Bijlsma J B, Bleeker-Wagemakers E M, de France H F, de Vries-Ekkers C M A M: Two cases with different deletions of the long arm of chromosome 7. J. Med. Genet. 16:151-154, 1979. [PMC free article: PMC1012742] [PubMed: 458833]46,XX,del(7)(pter -> q21::q32 -> qter).&46,XX,del(7)(pter -> q11::q22 -> qter).&Two mentally and physically retarded girls are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The data available do not justify the delineation of a specific clinical syndrome.Aberration: Interstitial deletionNo band
- Lippman-Hand A, Vekemans M J J: Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers? Hum. Genet. 63:252-257, 1983. [PubMed: 6852821]46,XX,t(7;13)(q11;p12).Aberration: Simple translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)No band
- Lozzio C B, Klepper M B: Chromosome aberrations identified by the new banding techniques. AJHG 26:55A, 1974.t(7;14)(q11;q32).&This new balanced translocation was found in a child.Aberration: Simple translocationNo band
- Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]Case 4.46,XY,inv(7)(q11q22)mat.Aberration: Inversion paracentricNo band
- Martin R H: Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 7 (q11q22). Hum. Genet. 73:97-100, 1986. [PubMed: 3721507]Aberration: Inversion paracentricNo band
- Orye E, Van Bever H: Paracentric inversions: two new familial cases, inv(7)(q22q11) and inv(11)(q23q13). J. Med. Genet. 20:231, 1983. [PMC free article: PMC1049057] [PubMed: 6576176]46,XX and XY,inv(7)(q22q11).Aberration: Inversion paracentricNo band
- Richkind K E, 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. 726.46,XX,t(7;10)(q11;q22)mat.Aberration: Reciprocal translocationNo band
- Sachs E S, Niermeijer M F, Jahodova M, Galjaard H: Chromosome studies in prenatal diagnosis. J. Genet. Hum. 23:233-238, 1975. [PubMed: 1214143]46,XY,t(7;21)(q11;q11).&"46,XY,t(7;21)(7pter -> 7q11::21q11 -> 21qter;21pter -> 21q11::7q11 -> 7qter)."Aberration: Reciprocal translocationNo band
- Schmid M, Haaf T, Zorn M: Paracentric inversions in human chromosome 7. Hum. Genet. 74:197-199, 1986. [PubMed: 3770747]Patient was 18 years old with minor malformations.46,XX,inv(7)(q11q22)mat/45,X,inv(7)(q11q22)mat.Aberration: Inversion paracentricNo band
- Seabright M, Lewis G M: Interstitial deletion of chromosome 7 detected in three unrelated patients. Hum. Genet. 42:223-226, 1978. [PubMed: 669706]46,XX and XY,del(7)(q11q21).&46,XX and XY,del(7)(pter -> q11::q21 -> qter).&The three patients karyotyped were (1) a boy with growth retardation and mental subnormality, (2) a female infant with a marked developmental delay and (3) a man whose wife had a stillborn with congenital anomalies.Aberration: Interstitial deletionIndex Terms: Developmental retardation,Still born (premature)No band
- Thoene J, Higgins J V, Krieger I, Schmickel R D, Weiss L: Genetic screening for mental retardation in Michigan. Am. J. Ment. Defic. 85:335-340, 1981. [PubMed: 7457497]47,XY,del(7)(q11q22).&Probably it is a 46,XY,del(7)(q11q22) case.Aberration: Interstitial deletionNo band
- Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]46,XX,inv(7)(q11q22)mat.Aberration: Inversion paracentricNo 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(7;10)(q11;q24).46,XX,t(7;11)(q11;p11).46,XX,t(7;17)(q11;q21.3).46,XY,t(7;18)(q11;q21).Aberration: Reciprocal translocationNo band
- Xia J, Li L, Dai H, Xu J, Xu F, He X: G-banded chromosomes of 3,415 liveborn infants. Chin. Med. J. 97:921-927, 1984. [PubMed: 6443290]Case No. 02348,121181.46,XY,inv(7)(q11q22)pat.Aberration: Inversion paracentricNo band
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