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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- Bauer S N, 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. 1306.46,XX,inv(10)(p15q22)mat.Aberration: Inversion pericentricNegative band
- Same entry as in 05p120,05p130 (Boue and Gallano, 1984).
- 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(10;11)(p15;q23); t(10;12)(p15;p11); t(10;14)(p15;q12); t(10;18)(p15;q22).Aberration: Reciprocal translocationNegative band
- Castle D, Bernstein R: Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. AJMG 29:549-556, 1988. [PubMed: 3376998]46,XY,t(10;11)(p15;q13).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- Chen Z, Meloni-Ehrig A, Palumbos J C, Guan X-Y, Carroll K L, Dent K M, Carey J C.: Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics. AJMG 102:379-382, 2001. [PubMed: 11503167]47,XX,+r[7]/46,XX[13].ish r(10)(p15q11.1)(wcp10+).The 9 month old patient had MCAAberration: Ring chromosomeChromosomal Aneuploidy: 10p+
- Concolino D, Iembo M A, Marotta R, Rossi E, Moricca M T, Giglio S, Strisciuglio P.: Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation. AJMG DOI=10.1002/ajmg.a.20299;123A:201-203, 2003. [PubMed: 14598349]46,XY,r(10)(p15q26).The 32 year old was ascertained during a family history taking for a sister''s prenatal workup. He had MCA and was developmentally retarded (with a psychiatric history).Aberration: Ring chromosomeChromosomal Aneuploidy: 10p-;10q-
- Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J.: A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2006.01.001; 49: 402-413, 2006. [PubMed: 16488200]Aberration: Simple translocationChromosomal Aneuploidy: 10p+;18q-
- Dutrillaux B, Laurent C, Robert J M, Lejeune J: Pericentric inversion, inv(10), in a mother and aneusomy by recombination, inv(10),rec(10), in her son. Cytogenet. Cell Genet. 12:245-253, 1973. [PubMed: 4752866]46,XX,inv(10)(p15q24).&46,XX,inv(10)(pter -> p15::q24 -> p15::q24 -> qter).&46,XY,rec(10)(qter -> q24::p15 -> qter)mat.Aberration: PI,RENegative band
- English C J, Davison E V, Bhate M S, Barrett L: Chromosome studies of males in an institution for the mentally handicapped. J. Med. Genet. 26:379-381, 1989. [PMC free article: PMC1015622] [PubMed: 2525623]46,XY,del(10)(p15).Aberration: Terminal deletionNegative band
- Fryns J P, De Boeck K, Jacken J, van den Berghe H: Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum. Genet. 43:239-244, 1978. [PubMed: 567620]Case K. F. (4 months old) in this report.46,XY,r(10)(p15q25)t(10;19)(q25;p13).&"46,XY,r(10)(p15 -> q25)t(10;19)(19qter -> 19p13::10q25 -> 10qter)."Aberration: Ring chromosomeNegative band
- Same entry as in 10p12.3 (Hoo et al, 1995).
- Leana-Cox J, Levin S, Surana R, Wulfsberg E, Keene C L, Raffel L J, Sullivan B, Schwartz S: Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries. AJHG 52:1067-1073, 1993. [PMC free article: PMC1682285] [PubMed: 8503441]Case 2.46,XX,der(10)t(10;13)(p15;q14.2).The phenotype was consistent with trisomy 13.The clinical phenotype and/or cytogenetic evaluations suggested a likely origin of the duplicated material.Aberration: Simple translocationChromosomal Aneuploidy: 13q+,10p-Index Terms: FISHNegative band
- Mascarello J T, Jones M C, Hoyme H E, Freebury M M: Duplication (17p) in a child with an isodicentric (17p) chromosome. AJMG 14:67-72, 1983. [PubMed: 6681937]Patient died after 54 days, had partial deficiency of the telomeric end of 10p (pter to p15).46,XX,-10,+der(10)t(10;17)(p15;q21) idic(17)(q21).&"46,XX,-10,+der(10)t(10;17)(17qter -> 17q21::10p15 -> 10qter), idic(17)(pter -> q21::q21 -> pter)."Aberration: IC,DI,STNegative band
- Multani A S, Radhakrishna U, Sheth F J, Shah V C, Chinoy N J, Pathak S.: Maternal inheritance of a 10/15 translocation in a female with a history of obstetric problems. Braz. J. Genet. 19:497-500, 1996.Proband II-3 in the pedigree.46,XX,der t(10;15)(p15;q22)mat.The proband was karyotyped because of spontaneous abortions (4) and three early infant deaths.Four sibs of the proband were also translocation carriers.Aberration: Reciprocal translocationNegative band
- Murthy S K, Kar B, Prabhakara K, Krishnamurthy D S: "Trisomy 18q: 46,XX,-10,+der(10)t(10;18)(p15;q12)pat: a case report." Ann. Genet. 35:174-177, 1992. [PubMed: 1466569]46,XX,-10,+der(10)t(10;18)(10qter -> 10p15::18q12 -> 18qter)pat.&"46,XY,t(10;18)(p15;q12)."The two month old patient had MCA, intrauterine and postnatal growth retardation.Aberration: Reciprocal translocationChromosomal Aneuploidy: 10p-Negative band
- Nakai H, Adachi M, Katsushima N, Yamazaki N, Sakamoto M, Tada K: Ring chromosome 10 and its clinical features. J. Med. Genet. 20:142-144, 1983. [PMC free article: PMC1049021] [PubMed: 6842550]Patient,051177.46,XY,r(10)(p15q26).Aberration: Ring chromosomeNegative band
- Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]Case No. 9612 in this laboratory.46,XY,t(10;12)(p15;p11)de novo.Aberration: Reciprocal translocationNegative band
- Rodriguez M T, Martin M J, Abrisqueta J A: Familial pericentric inversion (10) and its effect on two offspring. J. Med. Genet. 21:317-319, 1984. [PMC free article: PMC1049307] [PubMed: 6492099]46,XX and XY,inv(10)(p15q24) in three generations.&47,XX,der inv(3)(p15q24)mat,+18.&46,XY,rec(3)dup(q)def(p)(p15q24)mat.Aberration: Inversion pericentricNegative band
- Serville F D, Briault R, Taillemite J L, Despoisse S, Cotoni P, Broustet A: Ring chromosome 10: 46,XX,r(10)(p15q26). Ann. Genet. 25:168-171, 1982. [PubMed: 6982669]Patient Valerie M... was 9 years old.Aberration: Ring chromosomeNegative band
- Shapiro S D, Hansen K L, Pasztor L M, DiLiberti J H, Jorgenson R J, Young R S, Moore C M: Deletions of the long arm of chromosome 10. AJMG 20:181-196, 1985. [PubMed: 3970071]Patient 8.46,XY,r(10)(p15 -> q26).Aberration: Ring chromosomeNegative band
- Simoni G, Rossella F, Dalpra L, Visconti G, Piria-Schwarz C: Ring chromosome 10 associated with multiple congenital malformations. Hum. Genet. 51:117-121, 1979. [PubMed: 511137]Patient BI, 060178, in this report, showing multiple malformations and severe mental retardation. Karyotypes of both parents were normal.46,XY,r(10)(p15q26).Aberration: Ring chromosomeNegative band
- Somer M S, Tienari P, Kahkonen M.: Cryptic translocation 10pter;18qter as a cause of two different microdeletions in the offspring. AJHG 67 (Suppl. 2):159, 2000.46,XX and XY,t(10;18)(p15;q23).,46,XX and XY,der(18)t(10;18).,46,der(10)t(10;18).A three generation family with 5 males and 4 females with different grades of psychomotor retardation is reported. Three of them also had rheumatoid arthritis, two IgA deficiency, and one diabetes mellitus.FISH studies, with TelVysion telomere probes, showed the deletions of 10p and 18q.Aberration: Reciprocal translocationChromosomal Aneuploidy: 10p-;18q-;18q+No band
- Sparkes R S, Ling S M, Muller H: Ring 10 chromosome: 46,XX,r(10)(p15q26). Hum. Genet. 43:341-345, 1978. [PubMed: 700708]A teenage girl with mild retardation and some clinical features suggestive of the Turner syndrome was found -> have a r(10)(p15q26) in blood and skin cells. Quantitative evaluation of 28 red cell enzymes known -> be on chromosome 10 gave normal values.Aberration: Ring chromosomeIndex Terms: Turner syndromeNegative band
- Teyssier M, Moreau N: Familial pericentric inversion of chromosome 10. Two new cases. Ann. Genet. 26:183-186, 1983. [PubMed: 6606382]46,XY,inv(10)(p15q11).Aberration: Inversion pericentricNegative band
- Tsukino R, Tsudu N, Dezawa T, Ishii T, Koike M: Ring chromosome 10: 46,XX,r(10)(p15->q26). J. Med. Genet. 17:148-150, 1980. [PMC free article: PMC1048524] [PubMed: 7381872]46,XX,r(10)(p15->q26).,An 8 month old proband is described in this report. Mother and father were 23 and 27 years old respectively.Aberration: Ring chromosomeNegative band
- Uchida I A, Freeman V, 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. 911.46,XY,t(10;15)(p15;q21)mat.Aberration: Reciprocal translocationNegative band
- Same entry as in 02p112,03p210,09q110 (Warburton D, 1991).
- Wolff G, Back E, Arleth S, Rapp-Korner U: Genetic counseling in families with inherited balanced translocations: experience with 36 families. Clin. Genet. 35:404-416, 1989. [PubMed: 2736789]Case No. 29.46,XX and XY,t(10;15)(p15;q23).Aberration: Simple translocationNegative band
- 10p150 - Chromosomal Variation in Man10p150 - Chromosomal Variation in Man
- txid1399793[Organism] (242)Nucleotide
- txid1590[orgn] AND "strain BCC9546"[All Fields] (1)SRA
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