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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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09p230

9p23
  • Argyriou L, Hiort O, Meinecke P, Wunsch L, Volleth M, Hinrichs F, Caliebe A, Gillesen-Kaesbach G. : A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with complete gonadal dysgenesis, tall stature and mental retardation. Clin. Dysmorphol. 19: 190-194, 2010. [PubMed: 20671549]
    46,XY,der(9)t(9;15)(p23;q25.3)
    The 12 year old girl had no signs of puberty and laboratory findings were consistent with the phenotype.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 9p-; 15q+
    Index Terms: Complete gonadal dysgenesis
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 10951 in this report.
    46,XX,t(9;12)(p23;q243).&"46,XX,t(9;12)(9qter -> 9p23::12q243 -> 12qter;12pter -> 12q243::9p23 -> 9pter)."&"46,XY,der(9)t(9;12)(p23;q243)mat."
    Aberration: Reciprocal translocation
    Positive band
  • Berry A C, Docherty Z, Bobrow M: Abnormal chromosome complement after normal amniocentesis result. Lancet 340:1361, 1992. [PubMed: 1360083]
    Case 3.
    46,XY,-9,+der(9)?t(9;?)(p23;?).
    The baby was abnormal and rekaryotyping showed the chromosome defect.
    Aberration: Simple translocation
    Positive band
  • Same entry as in 01p220,03q250,08q230 (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(9;10)(p23;q23); t(9;15)(p23;q15).
    Aberration: Reciprocal translocation
    Positive band
  • Fryns J P, Lambrechts A, Jansseune H, van den Berghe H: Moderate mental retardation and non-specific dysmorphic syndrome associated with ring chromosome 9. Hum. Genet. 50:29-32, 1979. [PubMed: 468257]
    46,XY,r(9)(p23q33).
    Patient VHJ, a 12 year old boy, was moderately mentally retarded.
    Aberration: Ring chromosome
    Positive band
  • Hasle H, Brandt C, Kerndrup G, Kjeldsen E, Sorensen A G.: Haemophagocytic lymphohistiocytosis associated with constitutional inversion of chromosome 9. Brit. J. Haemat. 93:808-809, 1996. [PubMed: 8703807]
    46,XY,inv(9)(p23q31 or q32) in skin, bone marrow and lymphocyte cultures.
    The 3 month old boy was treated with BMT and died later from respiratory problems.
    Aberration: Inversion pericentric
    Index Terms: Haemophagocytic lymphohistiocytosis
    Positive band
  • Hoo J J, Fischer A, Fuhrmann W: "Familial tiny 9p/20p translocation; 9p24 the critical segment for monosomy 9p syndrome." Ann. Genet. 25:249-252, 1982. [PubMed: 6985017]
    t(9;20)(p23;p13).
    Aberration: Simple translocation
    Positive band
  • Jaffray J Y, Geneix A, Goumy P, Perissel B, Menut G, Malet P: Partial trisomy 18 (pter to q122) of maternal origin. Ann. Genet. 23:224-227, 1980. [PubMed: 6971601]
    Mother=46,XX,t(9;18)(p23;q122).&"Proband=47,XX,+der(18),t(9;18)(18pter -> 18q122::9p23 -> 9pter)."
    Proband''s phenotype includes many features of Edwards syndrome.
    Aberration: Simple translocation
    Positive band
  • Langer S, Fauth C, Rocchi M, Murken J, Speicher M R.: AcroM fluorescent in situ hybridization analyses of marker chromosomes. Hum. Genet. 109:152-158, 2001. [PubMed: 11511920]
    Case 12=+r(9)(:p23q12?::
    Case ascertained because of dysmorphic features; MR; and no speech development.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 9p and q+
    Index Terms: SMC,AcroM
  • Lewis K E, Lubetsky M J, Wenger S L, Steele M W.: Chromosomal abnormalities in a psychiatric population. AJMG (Neuropsychiatr. Genet.) 60:53-54, 1995. [PubMed: 7485235]
    46,XX,del(9)(p23).
    Patient was 10 years old with dysmorphic features, an oppositional disorder and an borderline IQ.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 9p-
    Positive band
  • Melaragno M I, Gonzalez C H, Brunoni D, Kim C A.: Deletion 9p and duplication 17p due to a translocation t(9;17)(p23;p13)pat. Braz. J. Genet. 19:493-496, 1996.
    Patient L.S.P.:
    46,XY,-9,+der(9),t(9;17)(p23;p13)pat.
    The patient is 5 years old with several dysmorphic features and developmental and growth delay.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p-;17p+
    Positive band
  • Mucke J, Trautmann U, Sandig K R, Theile H: The crucial band for phenotype of trisomy 18. Hum. Genet. 60:205, 1982. [PubMed: 7076263]
    It is suggested that the band responsible for Edwards syndrome is proximal to 18q122.
    46,XY,t(9;18)(p23;q122).
    Patient S.R.
    46,XY,der(9)t(9;18)(9qter->9p23::18q122->18qter)pat.
    Aberration: Reciprocal translocation
    Index Terms: Edwards syndrome (trisomy 18)
    Positive band
  • Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Pal Singh-Kahlon D, Serra A: "Familial C/D translocation t(9;13)(9p23;13q21) in a male associated with recurrent abortion." Hum. Genet. 33:223-230, 1976. [PubMed: 964984]
    Serra A, Ricci R, Aronson M M, Mulivor R A, Greene A E, Coriell L L: "A familial t(9;13) balanced translocation associated with recurrent abortion. Repository identification No. GM2492." Cytogenet. Cell Genet. 27:269, 1980. [PubMed: 7438787]
    The father (P.G.) and the index case (P.A.) in this report have the following karyotype:&"46,XY,t(9;13)(p23;q21)."&"46,XY,t(9;13)(9qter -> 9p23::13q21 -> 13qter;13pter -> 13q21::(?)9p23 -> 9pter)."&The C/D translocation has been carried for three generations.&"46,XY,der(9)der(13)t(9;13)(p23;q21)pat."&The mother had four consecutive spontaneous abortions before the normal baby boy was born.
    Patient was 36 years old.
    46,XY,t(9;13)(9qter -> 9p22 or p23::13q14 or 21 -> 13qter;13pter -> 13q14 or 21::9p22 or 23 -> 9pter).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Portnoi M F, Van den Akker J, Le Porrier N, Joye N, Youssef S, Taillemite J L: A new case of ring chromosome 9. Ann. Genet. 25:164-167, 1982. [PubMed: 6982668]
    Patient Samia S... was 2 months old. Parental karyotypes were normal; mother was 22 and father was 25 years old.
    46,XX,r(9)(p23q34).
    Aberration: Ring chromosome
    Positive band
  • Prieto F, Badia L, Asensi F, Roques V: "Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+). A study of the families." Hum. Genet. 54:7-11, 1980. [PubMed: 7390483]
    A 6 month old boy with multiple congenital anomalies.
    46,XY,-9,+der(9)t(9;13)(p23;q21)pat.&"46,XY,-9,+der(9)t(9;13)(9qter -> 9p23::13q21 -> 13qter)pat."
    Case 1, L. C. V., 28 years old. Parents had normal karyotypes.
    46,XY,t(9;13)(p23;q21).
    Aberration: Simple translocation
    Positive band
  • Salman M, Jhanwar S C, Ostrer H.: Will the new cytogenetics replace the old cytogenetics? Clin. Genet. DOI=10.1111/j.1399-0004.2004.00316.x; 66:265-275, 2004. [PubMed: 15355426]
    Veitia R, Nunes M, Brauner R, Doco-Fenzy M, Joanny-Flinois O, Jaubert F, Lortat-Jacob S, Fellous M, McElreavey K.: Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1. Genomics 41:271-274, 1997. [PubMed: 9143505]
    Patient A=46,XY,inv dup(9)(qter->p23::p23->p12:)del(9)(p24->pter)de novo.,Case 15 (in 2004 paper)=46,XY,enh(9)(p23-p13.3)
    External genitalia were completely feminized, including a vagina and hemiuterus.
    Patient B:
    mos46,XY,t(9;14)(p23;q12),-der(14)t(9;14),+r(14)/45,XY,t(9;14)(p23;q12),-der(14)t(9;14)
    The patient had ambiguous genitalia.
    Aberration: TD,RT
    Chromosomal Aneuploidy: 9p-
  • Sanlaville D, Romana S P, Lapierre J M, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M.: A CGH study of 27 patients with CHARGE association. Clin. Genet. 61:135-138, 2002. [PubMed: 11940088]
    der(9)t(9;13)(p23;q33)pat.
    Aberration: Reciprocal translocation
    MIM#: 214800
    Chromosomal Aneuploidy: 9p-;13q+
    Index Terms: CHARGE
  • Schonberg S, Golbus M S, 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. 871.
    46,XX,t(9;18)(p23;q23).
    Aberration: Reciprocal translocation
    Positive band
  • Serra A, Bova R, Bellanova G, Chindemi A, Zappata S, Brahe C.: Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation. AJMG 71:139-143, 1997. [PubMed: 9217211]
    45,XX,-13,-9,t(9p;13p)(13qter->13p11::9p23->9qter).
    The 16 year old patient was evaluated because of mental deficiency, obesity, trigonocephaly, hypertelorism, and a short, broad neck.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 9p-
    No band
  • Tengstrom C, Autio S: Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding. Clin. Genet. 31:53-60, 1987. [PubMed: 3568434]
    Patient A.S. was 36 years old with short stature and abnormal dermatoglyphs.
    46,XX,del(9)(p23)fra(9)(p21.2).
    Aberration: Terminal deletion
    Index Terms: Stature ... short (low)
    Positive band
  • Veitia R A, Nunes M, Quintana-Murci L, Rappaport R, Thibaud E, Jaubert F, Fellous M, McElreavey K, Goncalves J, Silva M, Rodrigues J C, Caspurro M, Boieiro F, Marques R, Lavinha J.: Swyer syndrome and 46,XY partial gonadal dysgenesis associated with (p deletions in the absence of monosomy-9p syndrome. AJHG 63:901-905, 1998. [PMC free article: PMC1377411] [PubMed: 9718353]
    Patient 1:
    46,XY,del(9)(p23)
    Patient was 10 years old.
    10 other patients were reviewed.
    Aberration: Terminal deletion
    MIM#: 158170
    Chromosomal Aneuploidy: 9p-
    Index Terms: Swyer syndrome
  • Walter S, Sandig K, Hinkel G K, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.: Subtelomeric FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. AJMG DOI=10.1002/ajmg.a.30160; 128A:364-373, 2004. [PubMed: 15264281]
    Patient 4=46,XX.ish der(9)t(9;18)(p23;q22.3)(yac932b10/D18 )pat.,Father=46,XY.ish t(9;18)(p23;q22.3)
    Monosomy 9p (11.0-16.0 Mb) and trisomy 18q (8.6-15.3 Mb).
    Aberration: RT,TD
    Chromosomal Aneuploidy: 3p+; 7q+; 9p-;18q+
    Index Terms: DMRT1,DMRT2
  • 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;15)(p23;q13).
    Aberration: Reciprocal translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106059
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