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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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09q110

9q11
  • Ackerman A D, Fackler J C, Tuck-Muller C M, Tarpey M M, Freeman B A, Rogers M C: Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity. NEJM 318:1666-1669, 1988. [PubMed: 3374538]
    46,XY,-21,der(9)t(9;21)(9pter -> 9q11::21q22 -> 22qter)mat.&"Mother:46,XX,t(9;21)(9pter -> 9q11::21q22 -> 21qter;21pter -> 21q22::9q11 -> 9qter)."
    Dysmorphic features included frontal bossing, beaked nose, low hairline, an antimongoloid slanting of the eyes, pectus excavatum, arthrogrypotic contractures of the extremities, bilateral transverse palmar creases, overriding and flexed fifth digits, and rocker-bottom feet.
    Suggestion has been made of a possible link between low levels of cuprozinc superoxide dismutase activity in patients with partial monosomy 21 and clinical evidence of pulmonary oxygen toxicity.
    Aberration: Reciprocal translocation
    MIM#: 147450
    Chromosomal Aneuploidy: 9p+,21q-
    Index Terms: Superoxide dismutase
    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]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    t(9;13)(q11;p11); t(9;22)(q11;q22).&"46,XX,t(9;20)(q11;p13)."
    Aberration: Reciprocal translocation
    Variable 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. 854.
    46,XY,t(9;14)(q11;p12)mat.
    Aberration: Reciprocal translocation
    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 3.
    46,XX,-22,+der(22),t(9;22)(9pter -> 9q11::22p11 -> 22qter).
    Aberration: Whole-arm translocations
    Variable 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]
    mos46,XY(4)/46,XY,del(9)(q11q21.2)(26).
    Aberration: Interstitial deletion
    Variable band
  • Federico A, Tomasetti P, Zollino M, Diomedi M, Dotti M T, De Stefano N, Gualdi G F, Neri G, Gigli G L.: Association of trisomy 9p and band heterotopia. Neurology 53:430-432, 1999. [PubMed: 10430446]
    47,XY,+der(9)(q11->pter)
    The patient was 32 years old and was evaluated because of MR and dysmorphic features.
    Chromosomal Aneuploidy: 9p+
    Index Terms: Band heterotopia
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case Ia-13 from PDL#37550.
    mos46,XX/46,XX,t(9;22)(q11;p11.1)(32.5%).
    Normal liveborn female.
    Aberration: Reciprocal translocation
    Variable band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case IV-6 from Richkind K E (90012756).
    mos46,XY/46,XY,del(9)(q11)[5.1%].
    Normal male liveborn.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 9q-
    Variable band
  • Jackson L G, 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. 885.
    46,XY,t(9;22)(q11;q11).
    Aberration: Reciprocal translocation
    Variable band
  • Kadotani T, Kanata S, Kubo S, Kodama H, Watanabe Y: A case of partial monosomy for the long arm of the No. 9 chromsome. Proc. Jpn. Acad. (Ser. B) 60:257-259, 1984.
    46,XY,del(9)(q11 -> q13).
    Aberration: Interstitial deletion
    Variable band
  • Mikkelsen M, Basli A, Poulsen H: Nucleolus organizer regions in translocations involving acrocentric chromosomes. Cytogenet. Cell Genet. 26:14-21, 1980. [PubMed: 7371429]
    t(9;15)(q11;q11).
    Aberration: Simple translocation
    Variable band
  • Rives N, Jarnot M, Mousset-Simeon N, Joly G, Mace B.: Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9;10)(q11;p11.1) carrier. J. Hum. Genet. 48:535-540, 2003. [PubMed: 14523620]
    46,XY,t(9;10)(q11;p11.1).
    The couple was referred for exploration of repetitive-4- spontaneous first trimester abortions. The man was 25 years old.
    A normal or balanced constitution was found in 56.25% of the analysed spermatozoa. The tertiary 3:1 segregation mode was the most frequently observed (14.37%). The frequencies of adjacent-1, adjacent-2 and 3:1 interchange modes were 12.85, 9.38 and 7.14% respectively. The cumulative frequency of non-viable imbalance was estimated at 20.91%.
    Aberration: Reciprocal translocation
  • Sandig K R, Mucke J, Veit H: Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome. Hum. Genet. 52:175-178, 1979. [PubMed: 511173]
    Patient, Oliver M., 260674, was 2 years old, mentally defective and had other anomalies. Both parents had normal karyotypes.
    45,XY,-9,-15,+i(9p),+t(9;15)(q11;p12).&"45,XY,-9,-15,+i(9)(pter -> cen -> pter), +t(9;15)(9qter -> 9q11::15p12 -> 15qter)."
    Aberration: Simple translocation
    Variable band
  • Shabtai F, Bichacho S, Halbrecht I: Triple mosaicism with two autosomally unbalanced cell lines in a phenotypically normal oligospermic man. Acta Genet. Med. Gemellol. 26:177-180, 1977. [PubMed: 596115]
    mos 46,XY/46,XY,del(9)(q11)/46,XY,-21,+t(9;21)(q11;p13).&"mos 46,XY/46,XY,del(9)(pter -> q11:)/46,XY,-21,+t(9;21)(21qter -> 21p13::9q11 -> 9qter)."
    Aberration: Simple translocation
    Index Terms: Oligospermia,Oligozoospermia
    Variable band
  • Sider D, Wilson W G, Sudduth K, Atkin J F, Kelly T E: Cytogenetic studies in couples with recurrent pregnancy loss. Southern Med. J. 81:1521-1524, 1988. [PubMed: 3201300]
    46,XX,t(9;14)(q11;p11).
    Aberration: Simple translocation
    Variable band
  • Turleau C, de Grouchy J, Chabrolle J P: Deletions intercalaires de 9q. Ann. Genet. 21:234-236, 1978. [PubMed: 314262]
    Turleau C, de Grouchy J, Roubin M, Chavin-Colin F, Cachin O: Pure trisomy 9p: 47,XX,+del(9)(q11). Ann. Genet. 18:125-129, 1975. [PubMed: 1081365]
    47,XX,+del(9)(q11).&47,XX,+del(9)(9pter -> 9q11:).&One cell of the father''s was 46,XY,del(9)(q11).&del(9)(q11q22).&Interstitial deletion was seen in an 8-year-old boy with severe psychomotor retardation and discrete facial dysmorphism.
    Aberration: TD,ID
    Index Terms: Facial dysmorphism
    Variable band
  • Turleau C, de Grouchy J, Chavin-Colin F, Roubin M, Brissaud P E, Repesse G, Safar A, Borinche P: Partial trisomy 9q: a new syndrome. Humangenetik 29:233-241, 1975. [PubMed: 1165102]
    Case 1 (Obs. No. 5031) 220470 in this report.
    46,XY,dup(9)(q11q33).
    Aberration: Duplication
    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,XY,t(9;10)(q11;p15).
    46,XY,t(9;14)(q11;p11).
    Aberration: Reciprocal translocation
    Variable band
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    46,XY,-9,+der(9)t(9;22)(q11;q13.3)mat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9q-;22q+
    Variable band
  • Wisniewski L, Purdy G, Hassold T J, Wilson C, Bentley K, Hackel E, Higgins J V: An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies. J. Med. Genet. 14:455-459, 1977. [PMC free article: PMC1013645] [PubMed: 604498]
    46,XX,del(9)(q11q21).&46,XX,del(9)(pter -> q11::q21 -> qter).&Both parents had normal karyotypes.
    Aberration: Interstitial deletion
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105464
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