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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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09p130

9p13
  • Angle B, Yen F, Cole C W.: Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: overlapping manifestations of characteristic phenotypes. AJMG 84:132-136, 1999. [PubMed: 10323738]
    Mother=46,XX,t(9;14)(p13;q22).,Patient=47,XX,+der(14)t(9;14)(p13;q22)mat.
    The neonate had MCA including cleft palate, hand and foot anomalies.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p+;14q+
  • Baccichetti C, Lenzini E, Temperani P, Pallotta R, Giorgi P L, Tarantino E, Mengarda G, Dordi B: Partial trisomy 9: clinical and cytogenetic correlations. Ann. Genet. 22:199-204, 1979. [PubMed: 399166]
    Case 1, E.S., aged 12 years.
    46,XX,inv dup(9)(pter -> p13::p21 -> p24::p13 -> qter).
    Case 2, M.L., aged 10 years.
    46,XX,-13,+der(13)t(9;13)(9pter -> 9q13::13q12 -> 13qter).
    Case 3, D''A T.V., aged 9 years.
    47,XX,+del(9)(pter -> q21).
    Aberration: Simple translocation
    Negative band
  • Bloom G E, Gerald P S: Localization of genes on chromosome 13: analysis of two kindreds. AJHG 20:495-511, 1968. [PMC free article: PMC1706388] [PubMed: 5703687]
    Dryja T P, Bruns G, Gallie B, Petersen R, Green W, Rapaport J M, Albert D M, Gerald P S: Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum. Genet. 64:151-155, 1983. [PubMed: 6885050]
    46,XX,t(9;13)(p13;q22).
    Patient 1.
    47,XX,+der(13)t(9;13)(p13;q22)mat.
    Aberration: Simple translocation
    Index Terms: Retinoblastoma
    Negative band
  • Same entry as in 04q350,05p150,07q350,0Xp220 (Boue and Gallano, 1984).
  • 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,t(9;21)(p13;q11).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    Negative band
  • Breg W R: Personal communication, 1978.
    46,XX,del(9)(qter -> p13:).
    Aberration: Terminal deletion
    Negative band
  • Chadefaux B, Allard D, Rethore M O, Raoul O, Poissonnier M, Gilgenkrantz S, Cheruy C, Jerome H: Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221. Hum. Genet. 66:190-192, 1984. [PubMed: 6232198]
    Case 6.
    46,XX,-21,+der(21)t(9;21)(21pter -> 21q22.2::9p13 -> 9pter)pat.
    Aberration: Simple translocation
    Negative band
  • Chiyo H, Furuyama J, Suehara N, Obashi Y, Kikkawa H, Ikoma F: Possible intrachromosomal duplication in a case of trisomy 9p. Hum. Genet. 34:217-221, 1976. [PubMed: 1002145]
    46,XY,inv dup(9)(p21p24).&46,XY,inv dup(9)(pter -> p13::p21 -> p24::p13 -> qter).&Karyotypes of the parents are normal. The propositus, a five-year-old boy with multiple minor anomalies and mental retardation, has an inverted and duplicated section in chromosome 9. In general the boy has the main clinical features of trisomy 9p.
    Aberration: Duplication
    Negative band
  • Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]
    Case 192.
    46,XY,dup(9)(p13 -> p21).
    Aberration: Duplication
    Negative band
  • Davis J R, Rogers B B, Hagaman R M, Thies C A, Veomett I C: Balanced reciprocal translocations: risk factors for aneuploid segregant viability. Clin. Genet. 27:1-19, 1985. [PubMed: 3884190]
    Case 75-16.
    t(9;18)(p13;p11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Fryns J P, Casaer P, van den Berghe H: Partial duplication of the short arm of chromosome 9(p13 to p22) in a child with typical 9p trisomy phenotype. Hum. Genet. 46:231-235, 1979. [PubMed: 422206]
    Subject L. W. in this report.
    46,XX,dup(9p)(pter -> p13::p22 -> p13::p13 -> qter).&Both parents had normal karyotypes.
    Aberration: Duplication
    Negative band
  • Fryns J P, Haspeslagh M, de Muelenaere A, van den Berghe H: 9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors? Hum. Genet. 70:280-286, 1985. [PubMed: 4018793]
    Patient D. J. 34 years old.
    46,XY,der(18)t(9;18)(p13;p11).
    Aberration: Simple translocation
    Index Terms: Leiomyomata
    Negative band
  • Fryns J P, Pedersen J C, Duyck H, Fabry G, van den Berghe H: Deletion of the short arm of chromosome 9. A clinically recognizable entity. Europ. J. Ped. 134:201-204, 1980. [PubMed: 7428770]
    Case 1, patient V. L. C., was 8 years old. Parents'' karyotypes were normal.
    Case 2, patient, V. A., 6 weeks old. Parents'' karyotypes were normal except that inv(9) was maternal in origin suggesting a paternal mutation of the deletion.
    46,XX,del(9)(p13).
    Aberration: Terminal deletion
    Negative band
  • Kadotani T, Watanabe Y, Sawano K: A case of the Kabuki make-up syndrome with familial inv(9) (p13q13). Proc. Jpn. Acad. (Ser. B) 60:92-94, 1984.
    46,XX and XY,der inv(9)(p13q13)pat.
    Aberration: Inversion pericentric
    MIM#: 147920
    Negative band
  • Kalousek D K, 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. 849.
    46,XY,t(9;14)(p13;p12).
    Aberration: Reciprocal translocation
    Negative band
  • Kanata S, Kadotani T, Watanabe Y, Matsuo N, Kodama H, Kubo S: A heavy mentally retarded girl having pericentric inversion on No. 9 chromosome (inv(9)(p13q21)). Proc. Jpn. Acad. (Ser. B) 61:329-332, 1985.
    46,XX,inv(9)(p13q21).
    Aberration: Inversion pericentric
    Negative band
  • Karp L, Resta R, 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. 865.
    46,XX,t(9;17)(p13;p12)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Kotzot D, Martinez M-J, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzankowska K, Dutly F, Gutkowska A, Karauzum S B, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A.: Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37:281-286, 2000. [PMC free article: PMC1734569] [PubMed: 10745046]
    Cases 11 and 12:
    46,XX,dup(9)(p13p24)pat
    Aberration: Duplication
    Chromosomal Aneuploidy: 9p+
  • Kumar H V, McMahon K J, Allman K M, McCaffrey B, Rowan A: Pericentric inversion chromosome 9 and personality disorder. Brit. J. Psychiat. 155:408-410, 1989. [PubMed: 2611558]
    46,XY,inv(9)(p13q13)mat.
    Aberration: MA,PI
    Index Terms: Personality disorder
    Negative band
  • Lin C C, Holman G, Sewell L M: "Inherited translocation t(9;11)(p13;p15) and partial trisomy 9p syndrome." AJHG 26:54A, 1974.
    46,XX,t(9;11)(p13;p15).&This mother had 10 children, three of whom have a partial duplication of the short arm of chromosome No. 9 and a partial deletion of the short arm of chromosome No. 11.
    Aberration: Reciprocal translocation
    Negative band
  • Lin C C, Kavanagh A J, Aronson M M, Greene A E, Coriell L L: "A (9;17) translocation, 46 chromosomes. Repository identification No. GM-988." Cytogenet. Cell Genet. 18:244, 1977. [PubMed: 872632]
    46,XY,t(9;17)(p13;q25).&"46,XY,t(9;17)(9qter -> 9p13::17q25 -> 17qter;17pter -> 17q25::9p13 -> 9pter)."&A 3 week old male with multiple congenital anomalies including facial asymmetry, a nose flattened on the right side, a high arch with a small opening in the middle of the soft palate, and simian creases on both hands. Both parents have normal karyotypes.
    Aberration: Reciprocal translocation
    Index Terms: Face ... asymmetric (hemi hypertrophy),Palate ... high arched
    Negative band
  • Martin M J, Abrisqueta J A: Unusual pericentric inversion inv(9)(p13q11) in a phenotypically normal family. Hum. Genet. 64:100, 1983. [PubMed: 6873942]
    Aberration: Inversion pericentric
    Negative band
  • Moreno-Fuenmayor H, Roldan-Paris L, Bermudez H: Ectodermal dysplasia in females and inversion of chromosome 9. J. Med. Genet. 18:214-217, 1981. [PMC free article: PMC1048708] [PubMed: 7241545]
    46,XX or XY,inv(9)(p13q21).
    Aberration: Inversion pericentric
    Index Terms: Ectodermal anomalies
    Negative band
  • Mulcahy M T, Jenkyn J: The 9p trisomy syndrome: Two further cases arising from different familial translocations. Clin. Genet. 8:199-204, 1975. [PubMed: 1175323]
    46,XX,t(9;21)(p13;q22).&"46,XX,der(9)der(21)t(9;21)(p13;q22)mat."
    Case 2, I.E. (000066) in this report.
    46,XX,-21,+der(21)t(9;21)(p13;q22)mat.&"46,XX,-21,+der(21)t(9;21)(21pter -> 21q22::9p13 -> 9pter)."
    Aberration: Simple translocation
    Negative band
  • Park V M, Gustashaw K M, Wathen T M: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. AJHG 50:914-923, 1992. [PMC free article: PMC1682611] [PubMed: 1570843]
    Case 4:
    45,XY,-18/46,XY,der(18)t(9;18)(qter -> ?9p13::18p11.3 -> 18qter)/46,XY,r der(18)(?9p11 -> ?9p13::18p11.3 -> 18q23)de novo.
    The 15 year old patient was severely retarded.
    Aberration: Simple translocation
    Index Terms: Telomeric sequences ... interstitial
    Negative band
  • Petty E M, Gibson L H, Breg W R, Burns J P, Yang-Feng T L: Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH). AJMG 45:770-773, 1993. [PubMed: 8456860]
    mos46,XX(80%)/46,XX,t(9;20)(20qter -> 20p13::9p13 -> 9pter)(20%).
    Patient had several dysmorphic features.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 9p+
    Index Terms: FISH
    Negative band
  • Priest J H, 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. 869.
    46,XY,t(9;18)(p13;p11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Tansatit M, Kongryttanachok N, Kongnak W, Arunpan S, Maneeshote P, Buasorn V, Praphanophoj V, Shotelersuk V.: Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13->9pter and deletion of 9q34.3. AJMG PartA: 140A: 1981-1987, 2006. [PubMed: 16906562]
    46,XX,der(9)t(9;?)(q34.3;?)dn,46,XX,der(9)(9pter->9q34.3::9p13->9pter)dn.
    The patient died at the age of 4 months from cardio-pulmonary failure related to the CHDs.
    Aberration: TD,DU
    Chromosomal Aneuploidy: 9p+;9q-
    Index Terms: Tetralogy of Fallot
  • Verheij J B G M, Bouman K, van Lingen R A, van Lookeren Campagne J G, Leegte B, van der Veen A, Hofstra R M W, Buys C H C M, van Essen A J.: Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22. AJMG 86:168-173, 1999. [PubMed: 10449655]
    46,XY,trp(9)(pter->p13::p13->p22::p22->p13::p13->qter)de novo
    Patient was 3 1/2 years old with MCA, hypotonic, developed seizures at 12 months of age, and is in a center for mentally retarded children and behavioral problems.
    FISH studies with probes D9S925, D9S301, YAC probes 850C5, 842D3, and 874C7 were done to confirm the triplication and inversion of segments on 9p.
    Aberration: TRP
    Chromosomal Aneuploidy: 9p+
    Index Terms: Triplication
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    Study done in couples with abortions or stillbirths.
    46,XX,t(9;22)(p13;p13).
    Aberration: Simple translocation
    Negative 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;13)(p13;q14.3).
    46,XY,t(9;15)(p13;p13).
    Aberration: Reciprocal translocation
    Negative band
  • Young R S, Bader P I, Palmer C G, Kaler S G, Hodes M E: Two children with de novo del(9p). AJMG 14:751-757, 1983. [PubMed: 6846405]
    Patient 2(191176).
    46,XY,del(9)(p13).
    Aberration: Terminal deletion
    Negative band
  • Zabel B, Hansen S, Hillig U, Groting-Imhof H: A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9. Hum. Genet. 36:117-122, 1977. [PubMed: 858620]
    Mother of the proposita had a karyotype 46,XX,inv(9)(p13q13).
    46,XX,inv(9)(9pter -> 9p13::9q13 -> 9p13::9q13 -> 9qter).
    The proband''s karyotype was 46,XX,del(11)(q23),inv(9)(p13q13)mat.
    46,XX,del(11)(11pter -> 11q23:),inv(9)(p13q13)mat.
    Aberration: Inversion pericentric
    Negative band
  • Zadeh T M, Funderburk S J, Carrel R E, Dumars K W: 9p duplication confirmed by gene dosage effect. Report of two patients. Ann. Genet. 24:242-244, 1981. [PubMed: 6977307]
    Case 1: Patient was 5 years old.
    46,XX,inv dup(9)(p24 -> p13)(pter -> p24::p13 -> p24::p24 -> qter).
    Case 2: Patient was 53 years old.
    47,XY,+del(9)(q12).&Karyotypes of all four parents were normal.
    Aberration: Inversion paracentric
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105610
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