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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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02p110

2p11
  • Baccichetti C, Lenzini E, Peserico A, Tenconi R: Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 to q13) segment of chromosome 2. Clin. Genet. 18:402-407, 1980. [PubMed: 7449177]
    Study on four unrelated families with history of reproductive failure is reported. No recombinant offspring is reported. Frequency of abortions in 21 published reports in 14/21 pregnancies; also see editorial comment in Obst. Gynecol. Survey 36:314-315, 1981.
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Variable 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(2;5)(p11;q24?); t(2;7)(p11;q31); t(2;17)(p11;p13); inv(2)(p11q11); inv(2)(p11q13); inv(2)(p11q21).
    Aberration: PI,RT
    Variable band
  • Bourrouillou G, Dastugue N, Colombies P: Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum. Genet. 71:366-367, 1985. [PubMed: 4077053]
    46,XY,inv(2)(p11q13).
    Aberration: Inversion pericentric
    Index Terms: Sterility ... male
    Variable band
  • Bruno A, Tortorella G, Stella N C, Righi L: A case of Smith-Lemli-Opitz associated with pericentric chromosome 2 inversion. Riv. Ital. Ped. 12:74-76, 1986.
    Riccardo S., 9 years old.
    46,XY,inv(2)(p11q13).
    Aberration: Inversion pericentric
    MIM#: 270400
    Index Terms: Smith-Lemli-Opitz syndrome
    Variable band
  • Daniel A: Structural differences in pericentric inversions. Application to a model of risk of recombinants. Hum. Genet. 56:321-328, 1981. [PubMed: 7239515]
    Case 2. D. S., 904/78.
    46,XY,inv(2)(p11q13).
    Aberration: Inversion pericentric
    Variable band
  • del Mar Perez M, Marina S, Egozcue J: Karyotype screening of potential sperm donors for artificial insemination. Hum. Reprod. 5:282-285, 1990. [PubMed: 2351711]
    46,XY,inv(2)(p11q14).
    Aberration: Inversion pericentric
    Index Terms: Sperm ... donor
    Variable band
  • Dignan P, Krouskop L, 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. 286.
    46,XY,t(2;19)(p11;q13)pat.
    Aberration: Reciprocal translocation
    Variable band
  • Djalali M, Steinbach P, Bullerdiek J, Holmes-Siedle M, Verschraegen-Spae M R, Smith A: The significance of pericentric inversions of chromosome 2. Hum. Genet. 72:32-36, 1986. [PubMed: 3943862]
    Steinbach P: Reply to the letter from J. Wahlstrom and M. Kyllerman. Hum. Genet. 74:329, 1986.
    Cases 4 through 13:
    46,XX and XY,inv(2)(p11q13).
    Aberration: Inversion pericentric
    Variable band
  • Egozcue J, Templado C, Navarro J, Benet J, Genesca A, Perez M M: Re: Pellestor et al. on sperm chromosomes. AJHG 45:477, 1989. [PMC free article: PMC1683418] [PubMed: 2773941]
    Estop A M, Marquez C, Munne S, Navarro J, Cieply K, Van Kirk V, Martorell M R, Benet J, Templado C.: An analysis of human sperm chromosome breakpoints. AJHG 56:452-460, 1995. [PMC free article: PMC1801134] [PubMed: 7847382]
    A positive significant correlation was found between sperm breakpoints and sites of balanced chromosome de novo rearrangements detected at prenatal diagnosis.

    Templado C, Navarro J, Benet J, Genesca A, MarPerez M, Egozcue J: "Human sperm chromosome studies in a reciprocal translocation t(2;5)." Hum. Genet. 79:24-28, 1988. [PubMed: 3366459]
    Patient was 26 years old.
    46,XY,t(2;5)(p11;q15).&"Son:mos45,X,t(2;5)(p11;q15)pat/46,XY,t(2;5)(p11;q15)pat."
    Aberration: Reciprocal translocation
    Variable band
  • Fryns J P, Kleczkowska A, Kenis H: De novo complex chromosomal rearrangement (CCR) in a severely mentally retarded boy. Ann. Genet. 27:62-64, 1984. [PubMed: 6609678]
    46,XY,t(2;14;21)(p11;q11q13;q11).,46,XY,t(2;14;21)(2pter->2p11::14q11->14pter;21pter->21q11::,14q11->14q13::21q11->21qter;2qter->2p11::14q13->14qter).
    Aberration: Complex translocation
    Variable band
  • Giraud F, Mattei J F, Mattei M G, Ayme S: Les inversions pericentriques. A propos de 47 observations. J. Genet. Hum. 27:109-122, 1979. [PubMed: 161573]
    Observation No. 2 in this report.
    inv(2)(p11q13).
    Aberration: Inversion pericentric
    Variable band
  • Griffin D K, Sanoudou D, Adamski E, McGiffert C, O''Brien P, Wienberg J, Ferguson-Smith M A.: Chromosome specific comparative genome hybridisation for determining the origin of intrachromosomal duplications. J. Med. Genet. 35:37-41, 1998. [PMC free article: PMC1051184] [PubMed: 9475092]
    Aberration: Duplication
    Chromosomal Aneuploidy: 2p+
    Index Terms: Comparative genome hybridisation (CGH)
  • Hansteen I L, Varslot K, Steen-Johnson J, Langard S: Cytogenetic screening of a newborn population. Clin. Genet. 21:309-314, 1982. [PubMed: 7116675]
    46,XX,t(2;13)(p11;p11).,46,XY,der(2)der(13)t(2;13)(p11;p11)mat.,46,XY,t(2;9)(p11;q34).,46,XX,der(2)der(9)t(2;9)(p11;q34)pat.
    Aberration: Simple translocation
    Variable band
  • Jacobs P A, Melville M, Ratcliffe S G, Keay A J, Syme J: A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37:359-376, 1974. [PubMed: 4277977]
    Thomas N S, Bryant V, Maloney V, Cockwell A E, Jacobs P A.: Investigation of the origins of human autosomal inversions. Hum. Genet. 123: 607-616, 2008. [PubMed: 18470537]
    Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    Inv(2)(p11q13) was found to be genuinely recurrent.
    M. R. C. Registry No. 161-72 in this report.
    46,XX,inv(2)(p11q13).,46,XX,inv(2)(pter->p11::q13->p11::q13->qter).
    Aberration: Inversion pericentric
    Variable band
  • Kaiser P: Pericentric inversions-Problems and significance for clinical genetics. Hum. Genet. 68:1-47, 1984. [PubMed: 6389316]
    Families: Wo 230/74; Neu 341/75; Ho 192/76; and Lie 269/78.
    inv(2)(p11q13).
    Aberration: Inversion pericentric
    Variable band
  • Leonard C, Hazael-Massieux P, Bocquet L, Larget-Piet L, Boue J: Pericentric inversion of chromosome 2(p11q13) in unrelated families. Humangenetik 28:121-128, 1975. [PubMed: 1150266]
    Four families were studied: observation No. 1- Yves D., No. 2- Genevieve L. and No. 3- M. Jean Paul M. in this report.
    Aberration: Inversion pericentric
    Variable band
  • Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    t(2;4)(p11;p16)pat.
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Variable band
  • MacDonald I M, Cox D M: Inversion of chromosome 2 (p11q13): frequency and implications for genetic counselling. Hum. Genet. 69:281-287, 1985. [PubMed: 3980020]
    Cases 1 to 5.
    inv(2)(p11q13). There is a typographical error - -p13 instead of q13.
    Aberration: Inversion pericentric
    Variable band
  • Mascarello J T, 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. 293.
    46,XY,t(2;21)(p11;q11)mat.
    Aberration: Reciprocal translocation
    Variable band
  • Phelan M C, Pulliam L, Stevenson R E: Pericentric inversion of chromosome number 2. Proc. Greenwood Genet. Ctr. 3:15-18, 1984.
    46,XX,inv(2)(p11q13)mat.
    Case 1 S. M.
    46,XX,inv(2)(p11q13).
    Case 2 D. W.
    46,XY,inv(2)(p11q13)mat.
    Mother''s karyotype was normal.
    Aberration: Inversion pericentric
    Variable band
  • Phillips R B: Pericentric inversions inv(2)(p11q13) and inv(2)(p13q11) in 2 unrelated families. J. Med. Genet. 15:388-390, 1978. [PMC free article: PMC1013737] [PubMed: 739530]
    Family 1.
    46,XX,inv(2)(p11q13).
    Family 2.
    46,XX,inv(2)(p13q11).,In family 1 two of her 3 children were inversion carriers for the inversion, mother had 4 miscarriages, 3 known to be spontaneous. In family 2, 2 of her 7 children were inversion carriers and no record of miscarriages.
    Aberration: Inversion pericentric
    Variable band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,inv(2)(p11q13).
    Aberration: Inversion pericentric
    Variable band
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,t(2;5)(p11;q31).
    Aberration: Reciprocal translocation
    Variable band
  • Romain D R, Chapman C J, Columbano-Green L M, Smythe R H, Gebbie O B: "Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13); in a patient referred for psychiatric problems." J. Med. Genet. 19:153-155, 1982. [PMC free article: PMC1048850] [PubMed: 7077627]
    46,XX and XY,der inv(2)(p11q13)pat,der inv(5)(p13q13).
    Aberration: Inversion pericentric
    Index Terms: Psychiatric problems
    Variable band
  • Rosenberg C, Knijnenburg J, de Lourdes Chauffaille M, Brunoni D, Catelani A L, Sloos W, Szuhai K, Tanke H J.: Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Hum. Genet. DOI=10.1007/s00439-004-1248-x; 116:390-394, 2005. [PubMed: 15726417]
    46,XY,der(2)(2pter->2p15::2p11->2q22::10q22->10q23::2p13->2p15::11q23->11qter),der(10)(10pter->10q22::2q22->2qter),der(11)(11pter->11q23::2p12->2p12::10q23->10qter)de novo.
    The 5-year-old patient exhibited behavioral changes and delay in speech development.
    A cryptic deletion on 2p12 involving BAC RP11-335E8.of 0.15-1.5 Mb
    Aberration: CT,ID
    Chromosomal Aneuploidy: 2p-
    Index Terms: Array CGH
  • Simoni G, Dalpra L, Terzoli G L, Rossella F, Tibiletti M G: "The offspring of marriage between two first cousins with the same reciprocal translocation t(2;7)(p11;q31)." Hum. Genet., 1980. [PubMed: 7192688]
    46,XX and XY,der(2)der(7)t(2;7)(p11;q31)mat and pat.
    Aberration: Reciprocal translocation
    Variable band
  • Sutherland G R, Carter R F, Bauld R, Smith I I, Bain A D: Chromosome studies at the paediatric necropsy. Ann. Hum. Genet. 43:173-181, 1978. [PubMed: 569457]
    inv(2)(p11q13).
    Aberration: Inversion pericentric
    Variable band
  • Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A.: Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities. Hum. Reprod. 11:2609-2612, 1996. [PubMed: 9021360]
    46,XY,inv(2)(p11q13)
    Aberration: Inversion pericentric
    Index Terms: ICSI
    No band
  • Varela M, 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. 1169.
    46,XY,inv(2)(p11q12)pat.
    Aberration: Inversion pericentric
    Variable band
  • Verma R S, Dosik H: Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases. Clin. Genet. 17:305-308, 1980. [PubMed: 7438487]
    Verma R S, Dosik H, Wexler I B: Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q14q) resulting in trisomy for chromosome 13q. J. Genet. Hum. 25:295-301, 1977. [PubMed: 599332]
    46,XX,inv(2)(p11q14).,46,XX,inv(2)(pter->p11::q14->p11::q14->qter).,The patient (case 1006) with multiple congenital anomalies expired at 4 months of age.,46,XX,der inv(2)(pter->p11::q14->p11::q14->qter)mat;,t(13;14)(13qter->13p11::14q11->14qter).
    Aberration: Inversion pericentric
    Variable 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,XY,del(2)(p11p13),t(3;11)(p32;q13)de novo.
    Aberration: Interstitial deletion
    Variable 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,inv(2)(p11q13).
    Aberration: Inversion pericentric
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105707
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