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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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09p110

9p11
  • 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(9;14)(p11;p11); t(9;15)(p11;q11).
    Aberration: Reciprocal translocation
    Variable band
  • Cohen O, Cans C, Mermet M-A, Demongeot J, Jalbert P.: Viability threshold for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations. Hum. Genet. 93:188-194, 1994. [PubMed: 8112744]
    46,XX,der(15)t(9;15)(p11;q12.2)
    Case from European prenatal diagnosis register.
    Aberration: Reciprocal translocation
  • Colls P, Blanco J, Martinez-Pasarell O, Vidal F, Egozcue J, Marquez C, Guitart M, Templado C.: Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei. Hum. Genet. 99:761-765, 1997. [PubMed: 9187669]
    No support for the existence of an interchromosomal effect for chromosome 21 was found.
    Aberration: Inversion pericentric
    No band
  • Cotter P D, Babu A, McCurdy L D, Caggana M, Willner J P, Desnick R J.: Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases. Ann. Genet. 40:222-226, 1997. [PubMed: 9526617]
    Case 1 was referred because of advanced maternal age.
    46,XX,der inv(9)(p11q13)mat,der inv(9)(p11q13)pat.
    The child was phenotypically normal, healthy and within normal limits for developmental landmarks at 5 years of age.
    Case 2 was referred at 23 weeks because of severe growth retardation of twin B and oligohydramnios.
    Twin A=46,XY.
    Twin B subsequently expired in utero.
    Twin B=46,XX,der inv(9)(p11q13)mat,der inv(9)(p11q13)pat. UPD for chromosome 9 was excluded.
    Aberration: PI,MA
    Index Terms: Homozygosity for inv 9
  • Croquette M F, Couturier J, Dutrillaux B, Turleau C, de Grouchy J: Two pericentric inversions of chromosome 9 in a sterile man: inv(9)(p11q1209) and inv(9)(pterq1209). Ann. Genet. 22:53-56, 1979.
    One of the inverted 9 chromosome resembles the ancestral 9 found in other primates. Complex meiotic configurations are responsible for sterility.
    Aberration: Inversion pericentric
    Index Terms: Sterility ... male
    Variable band
  • Cuoco C, Gimelli G, Pasquali F, Poloni L, Zuffardi O, Alicata P, Battaglino G, Bernardi F, Cerone R, Cotellessa M, Ghidoni A, Motta S: Duplication of the short arm of chromosome 9. Analysis of five cases. Hum. Genet. 61:3-7, 1982. [PubMed: 7129421]
    Case 4: 46,XX,der(13)t(9;13)(9pter->9p11::13p11->13qter).
    Aberration: Whole-arm translocations
    Variable band
  • Del Porto G, D''Alessandro E, Grammatico P, Coghi I M, DeSanctis S, Giambenedetti M, Vaccarella C, Fabi R, Marcaino M F, Nicotra M: Chromosome heteromorphisms and early recurrent abortions. Hum. Reprod. 8:755-758, 1993. [PubMed: 8314973]
    257 couples, 137 of them with 2 or more abortions and 120 controls were studied.
    inv(9)(p11q12).
    Of all the polymorphisms found on chromosomes 1, 9, 13, 14, 15, 16, 18, 19, 21, 22, and Y only one, inv(9) seems to be marginally related to recurrent abortion and only in exogamic population.
    Aberration: Inversion pericentric
    Index Terms: Miscarriage,Abortion ... spontaneous,Abortion ... recurrent
    Variable band
  • Dolan C, Vigfusson N 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. 867.
    46,XY,t(9;18)(p11;p11).
    Aberration: Reciprocal translocation
    Variable band
  • Ferguson-Smith M A, Aitken D A, Turleau C, de Grouchy J: Localisation of the human ABO:Np-1:AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum. Genet. 34:35-43,, 1976. [PubMed: 184030]
    47,XY,+der(9)(9pter -> 9q11:).
    Parents'' karyotypes were normal.
    Variable band
  • Fryns J P, Kleczkowska A, Londers L, Van Den Berghe H: Unusual chromosome 9 polymorphism and reproductive failure. Ann. Genet. 28:49-51, 1985. [PubMed: 3874589]
    46,XX,9qh+,inv(p11q12).
    Aberration: Inversion pericentric
    Variable band
  • Germain D, Philippe N, Hermier M, Requin C, Pincon J A: "Short arm trisomy in chromosome No. 9 (+9p syndrome). Report of one case due to maternal translocation t(9;22)(p11;q11)." Lyon Med. 233:227-230, 1975.
    Philippe N, Requin C, Germain D, Licheron A, Hermier M: "Trisomie 9p par translocation maternelle (9;22)(p11;q11)." J. Genet. Hum. 23:309-317, 1975.
    46,XX,t(9;22)(9qter->9p11::22q11->22qter;22pter->22q11::9p11->9pter).,46,XX,der(9)der(22)t(9;22)(p11;q11)mat.
    Subject G. Marie Esther (170772) (Observation No. 13868) in this report.
    47,XX,+der(22)t(9;22)(p11;q11).
    Aberration: Reciprocal translocation
    Variable band
  • Gustavson K H, Wahlstrom J: Trisomy 9p syndrome and XYY syndrome in siblings. Clin. Genet. 11:67-72, 1977. [PubMed: 830451]
    Individual I-2 in the pedigree: 46,XX,rcp(9;22)(p11;q11).
    Individual II-3 in the pedigree:47,XYY.,Ectopia lentis was present in both the XYY males and individual II-5 of this sibship, but this probably is a fortuitous occurrence.
    Individuals II-4 and II-5 in the pedigree.
    47,XY,+der(22)t(9;22)(p11;q11)mat.,These two brothers have partial trisomy of 9p segment.
    Aberration: Reciprocal translocation
    Index Terms: Eye ... lens, ectopia lentis,Lenses ... ectopia
    Variable band
  • Habedank M, Faust J: "Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp (9;21)(p11;q11)." Hum. Genet. 42:251-256, 1978. [PubMed: 149755]
    46,XX,t(9qter->9p11::21q11->21qter;21pter->21q11::9p11->9pter).,46,XX,der(9)t(9;21)(p11;q11)mat.
    Aberration: Reciprocal translocation
    Variable band
  • Jacobsen P, Hobolth N, Mikkelsen M: Trisomy 9p in a patient with a de novo 9/15 translocation. Clin. Genet. 7:317-324, 1975. [PubMed: 1126053]
    Patient 000062 in this report.
    46,XX,-15,+t(9;15)(9pter->9p11::15p11->15qter).
    Aberration: Simple translocation
    Variable band
  • Jacobs P A, Melville M, Ratcliffe S G: A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37:359-374, 1974. [PubMed: 4277977]
    M. R. C. Registry No. 192-72 in this report.
    46,XX,inv(9)(pter->p11::q13->p11::q13->qter).
    M. R. C. Registry No. 226-72 in this report.
    46,XX,inv(9)(pter->p11::q12->p11::q12->qter).
    Aberration: Inversion pericentric
    Variable band
  • Kadotani T, Watanabe Y, Matsuo N, Sawano K: A case with inv(9)(p11q13). Proc. Jpn. Acad. (Ser. B) 61:134-136, 1985.
    Kanata S, Kadotani T, Watanabe Y, Matsuo N, Kodama H, Kubo S: A case of mental retardation having pericentric inversion on No. 9 chromosome (inv(9)(p11q13)). Proc. Jpn. Acad. (Ser. B) 61:242-244, 1985.
    46,XX,inv(9)(p11q13).
    46,XY,inv(9)(p11q13).
    Patient was 6 years old with mental retardation; parents not karyotyped.
    Aberration: Inversion pericentric
    Variable band
  • Kaiser P: Pericentric inversions-Problems and significance for clinical genetics. Hum. Genet. 68:1-47, 1984. [PubMed: 6389316]
    16 families have been reported.
    inv(9)(p11q13).
    Aberration: Inversion pericentric
    Variable band
  • Keung Y-K, Knovich M A, Powell B L, Buss D H, Pettenati M.: Constitutional pericentric inversion of chromosome 9 and acute leukemia. Cancer Genet. Cytogenet. 145:82-85, 2003. [PubMed: 12885469]
    Six patients with AL were discussed, all but one had unfavorable outcome.
    inv(9)(p11q13)c
    Aberration: Inversion pericentric
    Index Terms: Acute leukemia
  • Lukusa T, Devriendt K, Holvoet M, Fryns J P.: Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant. AJMG 91:192-197, 2000. [PubMed: 10756341]
    46,XX,dup(9)(pter->q13::p11-q13).
    The patient was 31 years old and referred because of her mental handicap.
    Aberration: DI,MA
  • Mattina T, Sorge G, Milone G, Garozzo R, Conti L: Duplication 9p due to unequal sister chromatid exchange. J. Med. Genet. 24:303-305, 1987. [PMC free article: PMC1050057] [PubMed: 3585946]
    46,XX,dup inv(9)(p11q13)mat,,(pter->p12::q13->p11::p24->p12::q13->p11::q21->qter).
    Aberration: PI,DU
    Chromosomal Aneuploidy: 9p+
    Variable band
  • Nakagawa M, Kato H, Aotani H, Kondo M.: Ebstein''s anomaly associated with trisomy 9p. Clin. Genet. 55:383-385, 1999. [PubMed: 10422813]
    46,XX,der(22)t(9;22)(p11;p11.1)mat
    Patient was conceived by IVF when the mother was 40 years old. Two-dimensional echocardiogram revealed an ASD and Ebstein''s anomaly. The patient died of heart failure 25 days after birth.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p+
    Index Terms: Ebstein's anomaly
  • Nanko S: Schizophrenia with pericentric inversion of chromosome 9: a case report. Jpn. J. Psychiat. 47:47-49, 1993. [PubMed: 8411789]
    46,XX,inv(9)(p11q13).
    Aberration: Inversion pericentric
    Index Terms: Schizophrenia
    Variable band
  • Ramesh K H, Verma R S.: Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions. J. Med. Genet. 33:395-398, 1996. [PMC free article: PMC1050609] [PubMed: 8733050]
    Rivera H, Guti+¬rrez-Angulo M, Gonz+ílez-Garcia J R.: Chromosome 9qh inversions may not be true inversions. Hum. Genet. 105:181-182, 1999. [PubMed: 10480378]
    Verma R S.: Reply: pericentric inversion of chromosome 9qh are "real" but the mechanisms of their origin are highly complex. Hum. Genet. 105:183-184, 1999.
    Aberration: Inversion pericentric
    Variable band
  • Rethore M O, Hoehn H, Rott H D, Couturier J, Dutrillaux B, Lejeune J: Analyse de la trisomie 9p par denaturation menagee. Humangenetik 18:129-138, 1973. [PubMed: 4124236]
    Case No. 10 in this report.
    46,XX,-15,+t(9p15q).&"46,XX,-15,+t(9;15)(p11;q11)."
    Aberration: Simple translocation
    Variable band
  • Sudha T, Jayam S: Pericentric inversion in homologues of chromosome 9. Jpn. J. Hum. Genet. 38:341-343, 1993. [PubMed: 8260725]
    46,XX,inv(9)(p11q13)mat,inv(9)(p11q13)pat.
    Patient with labial adhesion was investigated and consanguinity was established.
    Aberration: Inversion pericentric
    Index Terms: Labial adhesion,Consanguin(eous),Homologues
    Variable band
  • Summitt R L, Tharapel A T, Wilroy R S, Jr: Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation. Europ. J. Ped. 125:169-174, 1977. [PubMed: 885143]
    Tharapel A T, Summitt R L: A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls. Hum. Genet. 37:329-338, 1977. [PubMed: 885553]
    46,XX,inv(9)(p11;q13) in blood.,46,XX,inv(9)(p11;q13),der(12),t(12;?)(p13;?) in fibroblasts.
    Aberration: Inversion pericentric
    Variable band
  • Varley J M, Gosden J R, Hulten M A: "Familial reciprocal translocation t(9;13)(p11;p12) investigated by silver staining and in situ hybridization." Hum. Genet. 59:422-428, 1981. [PubMed: 6174409]
    46,XX,t(9;13)(p11;p12).,46,XY,der(13)t(9;13)(p11;p12)mat.
    Aberration: Reciprocal translocation
    Variable band
  • Wirtz A: Personal communication, 1978.
    46,XY,der(15),t(9;15)(p11;q11)mat.
    Aberration: Whole-arm translocations
    Variable band
  • Yamada K: Population studies of inv(9) chromosomes in 4,300 Japanese: incidence, sex difference and clinical significance. Jpn. J. Hum. Genet. 37:293-301, 1992. [PubMed: 1297449]
    inv(9)(p11q13).
    There probably is a genetic effect on human reproductive performance.
    Aberration: Inversion pericentric
    Index Terms: Reproductive performance
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106490
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