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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-.

09p120

9p12
  • Blanco J, Egozcue J, Vidal F.: Interchromosomal effects for chromosome 21 in carriers of structural reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum. Genet. DOI 10.1007/s004390000295, April 19,2000. [PubMed: 10914679]
    46,XY,inv(9)(p12q12).
    The patient was a 37 year old fertile male carrier. The results were within normal limits.
    Aberration: Inversion pericentric
  • 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;20)(p12;q12).
    Aberration: Reciprocal translocation
    Positive band
  • Bussani Mastellone C, Giovannucci Uzielli M L, Guarducci S, Nathan G: Four cases of trisomy 9p syndrome with particular chromosome rearrangements. Ann. Genet. 34:115-119, 1991. [PubMed: 1746881]
    Case 4: N.M.
    46,XX,-9,+dup(9)(9pter -> 9p12::9p22 -> 9qter).
    Patient has MCA/MR. GALT activity was useful.
    Aberration: Duplication
    Chromosomal Aneuploidy: 9p+
    Positive band
  • Cerretini R, Acevedo S, Chena C, Belli C, Larripa I, Slavutsky I. : Evaluation of constitutional chromosome aberrations in hematologic disorders. Cancer Genet. Cytogenet. 134:133-137, 2002. [PubMed: 12034526]
    Case 5:
    46,XY,t(9;20)(p12;p12)[88%]/47,XY,t(9;20)(p12;p12),+12[12%].ish +12 in 12% cells.,1 year after treatment=46,XY,t(9;20)(p12;p12)[19]/47,XY,t(9;20)(p12;p12),+12[4].ish +12 in 5% cells.
    The 54 year old patient had CLL.
    Aberration: Reciprocal translocation
    Index Terms: Hematologic disorders
  • Chaabouni H, Chaabouni M, Maazoul F, M''Rad R, Jemma L B, Smaoui N, Terras K, Kammoun H, Belghith N, Ridene H, Oueslati B, Zouari F.: Prenatal diagnosis of chromosome disorders in Tunisian population. Ann. Genet. 44:99-104, 2001. [PubMed: 11522249]
    46,t(9;14)(p12;q32)+der(14).
    Pregnancy terminated.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 14q+
    Index Terms: Tunisian
  • 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 83.
    mos46,XX,dup(9p)(p12 -> p13)/47,XX,dup(9p)(p12 -> p13),+(mar)pat.
    Aberration: Duplication
    Positive 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 2.
    46,XX,dup(9p)(pter -> p12::p24 -> qter).
    Aberration: Duplication
    Positive band
  • Depinet T W, Zackowski J L, Earnshaw W C, Kaffe S, Sekhon G S, Stallard R, Sullivan B A, Vance G H, Van Dyke D L, Willard H F, Zinn A B, Schwartz S.: Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. Hum. Mol. Genet. 6:1195-1204, 1997. [PubMed: 9259264]
    Patient 7=47,XY,del(9)(p12),+der(9)(pter->p12::p12->pter).
    Aberration: TD,DU
    Chromosomal Aneuploidy: 9p+
    Index Terms: Neocentromere
  • Djalali M, Barbi G, Steinbach P: An unusual variant chromosome 9 due to disturbance of normal chromatin condensation at band p12? Clin. Genet. 30:80, 1986. [PubMed: 3757298]
    Prenatal diagnosis showed an unusual band at p12. A normal baby was born.
    46,XX,9p12var?.
    Aberration: Marker chromosome
    Positive band
  • Fallstrom S P, Wahlstrom J: A pericentric inversion of chromosome 9 and a rearrangement involving chromosomes 9 and 10, observed in two generations. Clinical description of chromosome 9(p12-p21) deletion syndrome. Clin. Genet. 15:480-486, 1979. [PubMed: 466847]
    46,XX or XY,inv 9(p12q13).&46,XX or XY,inv 9(p12p21).
    Individual, III-3, in the pedigree, was 6 1/2 year old. She had microcephalus, anti-mongoloid slant of the eyes, deformed ears and micrognathia, short neck with bilateral pterygium colli; widely spaced, flat nipples; rocker-bottom feet and a gap between the first and second toes, short, curved fifth fingers; large clitoris, palatoschisis, no gross deformities of the skeleton, but slight distortion of several ribs and vertebrae. Individual IV-4, in the pedigree, was 4 years old. In addition to the many common stigmata, he had retentio testis, left sided inguinal hernia, and umbilicus like dimple at the cranial end of crena ani, anal atresia with a rectoperinial fistula and tendiditis nodosa of the third finger bilaterally.
    Aberration: Inversion pericentric
    Index Terms: Anus ... anal atresia,Atresia ... anal,Clitoris ... large,Ears ... malformed,Eye ... antimongoloid,Foot ... rocker bottom,Hernia ... inguinal,Microcephaly,Micrognathia,Neck ... anomalies,Pterygium colli,Ribs ... anomalies,Testes ... undescended (cryptorchidism),Toes ... widely spaced,Vertebra ... abnormalities
    Positive band
  • Giltay J C, Gerssen-Schoorl K B J, van den Wagen A.: A case of de novo interstitial deletion of chromosome 9 (p12p13). Clin. Genet. 46:271-272, 1994. [PubMed: 7820945]
    Patient A.B.
    46,XX,del(9)(p12p13).de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 9p-
    Positive band
  • Hannam S, Greenough A, Dawson J M.: An unusual presentation of trisomy 9p syndrome with a partial Dandy-Walker malformation. Eur. J. Ped. 158:1012, 1999. [PubMed: 10592087]
    46,XY,dup(9)(p12p24)de novo
    The infant had MCA.
    Aberration: Duplication
    MIM#: 220210
    Chromosomal Aneuploidy: 9p+
    Index Terms: Dandy-Walker malformation
  • Hernandez A, Rivera H, Jimenez-Sainz M, Fragoso R, Nazara Z, Cantu J M: Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY,del(9)(pter to p12:). Ann. Genet. 22:155-157, 1979. [PubMed: 316671]
    Parents and a sister had normal chromosomes.
    Patient, 220776, was 15 months old.
    Positive band
  • Howard-Peebles P N, Stoddard G R: Pericentric inversions of chromosome number 9: Benign or harmful? Hum. Hered. 29:111-117, 1979. [PubMed: 155643]
    A normal male 46,XX,inv(9)(p12q13); a male with Down syndrome 47,XY,+21,inv(9)(p12q13); a premature infant with multiple congenital malformations 46,XX,inv(9)(p12q21), and a Down syndrome proband 47,XYqs,+21,inv(9)(p13q21), all with inherited inverted chromosome 9 are discussed.
    Aberration: Inversion pericentric
    Index Terms: Down syndrome (Trisomy 21),Still born (premature)
    Positive band
  • Kehrer-Sawatzki H, Szamalek J M, Tanzer S, Platzer M, Hameister H.: Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9. Genomics 85:542-550, 2005. [PubMed: 15820305]
    inv(9)(p12q21.3)
    Aberration: Inversion pericentric
    Index Terms: Chimpanzee
  • Lecce R, Murdolo M, Gelli G, Steindl K, Coppola L, Romano A, Cupelli E, Neri G, Zollino M.: The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12. Hum. Genet. DOI=10.1007/s00439-005-0085-x; 118:760-766, 2005, 2006. [PubMed: 16323011]
    Three cases, including 2 prenatal, were studied.
    46,X(X or Y),9p+
    Familial nature of this variant was well documented.
    Aberration: Marker chromosome
  • Motegi T, Watanabe K, Nakamura N, Hasegawa T, Yanagawa Y: De novo tandem duplication 9p (p12 to p24) with normal GALT activity in red cells. J. Med. Genet. 22:64-66, 1985. [PMC free article: PMC1049380] [PubMed: 2984424]
    46,XY,dir dup(9p)(pter -> p12::p24 -> qter).
    Aberration: Direct duplication
    Positive band
  • Park J P, Wojiski S A, Spellman R A, Rhodes C H, Mohandas T K.: Human chromosome 9 pericentric homologies: implications for chromosome 9 heteromorphisms. Cytogenet. Cell Genet. 82:192-194, 1998. [PubMed: 9858814]
    Wojiski S A, Rhodes C H, Brodhurst C A, Mohandas T K, park J P.: The G positive band of the rare euchromatic 9qh variant is derived from 9p12. Appl. Cytogenet. 23:125-129, 1997.
    Aberration: Marker chromosome
  • Pellestor F, Sele B, Jalbert H, Jalbert P: Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers. AJHG 44:464-473, 1989. [PMC free article: PMC1715574] [PubMed: 2818710]
    Mr. S.A. was 28 years old and diagnosed because of 3 years infertility.
    46,XY,t(9;18)(p12;q121).
    The distribution of imbalances in sperm is 72% adjacent I, 18.5% adjacent II, and 9.5% 3:1 segregations. There is postzygotic elimination process.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... karyotypes
    Positive band
  • Phelan M C, Stevenson R E, Anderson E V, Jr: Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop. AJMG 46:304-308, 1993. [PubMed: 8488876]
    Patient J.J. (father).
    46,XY,inv(9)(p13p24).&46,XX,inv(9)(p13p24)-aunt.
    Patient N.J. (GGC-18821).
    46,XY,rec(9)dup(p)(p13 -> p24::p12 -> p24::p12 -> qter)pat.
    The patient was 20 months old with dysmorphic features.
    Father and his sister were carriers of the inversion.
    Aberration: Inversion paracentric
    Chromosomal Aneuploidy: 9p+
    Index Terms: Paracentric inversion recombinant
    Positive 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 5 in this report.
    46,XY,t(9;19)(p12;p1)mat.
    Cases 3 and 4 in this report.
    46,XY,t(9;22)(p12;p11).
    Aberration: Simple translocation
    Positive band
  • Rodewald A, Stengel-Rutkowski S, Zankl M: The dermatoglyphic pattern of the trisomy 9p syndrome. Clin. Genet. 16:405-417, 1979. [PubMed: 527248]
    Family 1 in this report.
    46,XX or XY,t(9;15)(q13;q11).
    Family 2 in this report.
    46,XX or XY,t(9;18)(p12;p11).
    Aberration: Reciprocal translocation
    Positive band
  • Satinover D L, Vance G H, Van Dyke D L, Schwartz S.: Cytogenetic analysis and construction of a BAC contig across a common neocentromeric region from 9p. Chromosoma 110:275-283, 2001. [PubMed: 11534819]
    Vance G H, Curtis C A, Heerema N A, Schwartz S, Palmer C G.: An apparently acentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences. AJMG 71:436-442, 1997. [PubMed: 9286452]
    Patient B.S. (Family No. 88681).
    47,XX,del(9)(p12),+dup(9)(pter->p12::p12->pter)
    The patient had minor abnormalities and developmental delay.
    A functional centromere region was suggested by immunological studies with CENP-C and E.
    Aberration: TD,DU
    Chromosomal Aneuploidy: 9p+
    No band
  • Schinzel A A, Hayashi K, Schmid W: Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik 25:171-177, 1974. [PubMed: 4141334]
    46,XX,inv(9)(p12q13).&46,XY,der inv(9)/ 47,XY,der inv(9), +inv(9)(p12q13)mat.
    Aberration: Inversion pericentric
    Positive band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XX,dup(9)(p12p12)
    Aberration: Duplication
    Index Terms: ICSI
  • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]
    Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig K R, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U, Liehr T.: Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Europ. J. Hum. Genet. 10:790-800, 2002. [PubMed: 12461685]
    35 SMCs derived from all the human chromosomes, except 6, were studied.
    In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.
    These authors studied 5 controls, and 51 clinical cases: 48 with chromosome 9 heteromorphisms, one with exceptionally large inversion and two with an additional derivative chromosome 9,
    9ph+, 9qh+, inv(9)(p11q13), inv(9)(p24.1q31.2), r(9)(q12).
    It is suggested that several hotspots for recombination are present in the pericentromeric heterochromatin of HSA 9; and carry breakpoints located preferentially in 9p12 or 9q13-21.1 and less frequently in 9q12.
    Aberration: MA,PI,RI
  • Stumm M, Musebeck J, Tonnies H, Volleth M, Lemke J, Chudoba I, Wieacker P.: Partial trisomy 9p12p21.3 with a normal phenotype. J. Med. Genet. 39:141-144, 2002. [PMC free article: PMC1735042] [PubMed: 11836367]
    Proband (III-1)=46,XX,del(5)(p13.3).ish del(5p13.3)(D5S23-).,Grand-mother (I-2) and uncle (II-3)=46,XX or XY,ins(5;9)(p13.3;p12p21).,Father (II-2)=46,XY,der(5)(p13.3;p12p21.3)mat.
    Individual II-2 is phenotypically normal even though a carrier of partial trisomy 9p.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 9p+
  • Tsezou A, Kitsiou S, Galla A, Petersen M B, Karadima G, Syrrou M, Sahl+¿n S, Blennow E.: Molecular cytogenetic characterization and origin of two de novo duplication 9p cases. AJMG 91:102-108, 2000. [PubMed: 10748406]
    Case was a 10 month old boy with facial anomalies. Case 2 was 6 months old and referred because of facial appearance and developmental delay.
    46,XY,dup(9)(p12-p24). Origin of duplication was maternal in case 1, and paternal in case 2.
    Aberration: Duplication
    Chromosomal Aneuploidy: 9p+
  • Webb G C, Krumins E J M, Eichenbaum S Z, Voullaire L E, Earle E, Choo K H: Non C-banding variants in some normal families might be homogeneously staining regions. Hum. Genet. 82:59-62, 1989. [PubMed: 2714780]
    Three families with the variant are reported.
    46,XX or XY,hsr(9)(p12).
    The variant is not associated with any clinical abnormality.
    The additional material at 9p12 shows homogeneous staining of intermediate density with GTL- and RBG-banding, and negative staining with CBG-banding.,In situ hybridization with total genomic human DNA, cloned alpha satellite III, and ribosomal DNA all show no hybridization to the variant region.
    Aberration: Marker chromosome
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106625
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