09q120

9q12

Publication Details

  • Same entry as in 0Xp220, 0Xp22.1, 0Xp22.3 (Waters et al, 2001).

  • Abe T, Morita M, Sawai K, Ogawa H, Misawa S, Chishiro H: Trisomy 9p found in two sibs resulting from maternal translocation. Jpn. J. Hum. Genet. 21:169-175, 1976. [PubMed: 1036183]
    46,XX,t(9;22)(q12;p13).&"46,XX,t(9;22)(9pter -> 9q12::22p13 -> 22pter;22qter -> 22p13::9q12 -> 9qter)."
    Case K.I. and M.I. (23 year old and 27 year old respectively).
    47,XY and XX, der(9)t(9;22)(q12;p13)mat.&Both siblings had the characteristic features of the 9p trisomy syndrome.
    Aberration: Reciprocal translocation
    Variable band

  • Balestrazzi P, Croci G, Frassi C, Franchi F, Giovannelli G: Tetrasomy 9p confirmed by GALT. J. Med. Genet. 20:396-399, 1983. [PMC free article: PMC1049161] [PubMed: 6644773]
    mos46,XY/47,XY,+idic(9)(pter -> q12::q12 -> pter).
    Aberration: Dicentric chromosome
    Variable band

  • Balicek P, Zizka J, Lichy J: A case of trisomy 9p in a family with translocation 9/15. Humangenetik 27:353-358, 1975. [PubMed: 1150257]
    46,XX,t(9;15)(q12;p11).&"46,XX,t(9;15)(9pter -> 9q12::15p11 -> 15pter;15qter -> 15p11::9q12 -> 9qter)."&"46,XX and XY,der(9)der(15)t(9;15)(q12;p11)mat."&"47,XX,+der(9)t(9;15)(q12;p11)mat."
    Aberration: Reciprocal translocation
    Variable band

  • Buckton K E: The identification of whole chromosomes or parts of chromosomes by the new banding techniques. Nobel Symposium 23:196-200, 1972.
    46,XX,t(9;22)(q12;p1).&"47,XY,+der(9)t(9;22)(q12;p1)mat."&See Evans, Buckton and Sumner (1971) in entry 09q100 and Chandley et al (1972) in entry 09q120.
    Variable 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 2: I.L.
    47,XX,-9,-14,+der(9)(9pter -> 9q12),+der(9)(9pter -> 9q12 ),+der(14)t(9;14)(9qter -> 9q12::14p11 -> 14qter).
    Patient has MCA. GALT activity was useful.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 9p+
    Variable band

  • Buys C H C M, Gouw W L, Blenkers J A M, van Dalen C H: Heterogeneity of human chromosome 9 constitutive heterochromatin as revealed by sequential distamycin A/DAPI staining and C-banding. Hum. Genet. 57:28-30, 1981. [PubMed: 6167506]
    Buys C H C M, Ypma J M M, Gouw W L: Complete deficiency of constitutive heterochromatin on a human chromosome 9. Hum. Genet. 49:129-132, 1979. [PubMed: 89074]
    It is suggested that there are two subfractions of chromosome 9 constitutive heterochromatin, a distal one which fluoresces brightly with DAPI after preincubation with distamycin A, and a proximal one, which stains intensely with giemsa after sequential C-banding, which occasionally indicate an independent genetic behavior.
    Aberration: Marker chromosome
    Variable band

  • Carr D M, 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. 864.
    46,XY,t(9;16)(q12;p13)mat.
    Aberration: Reciprocal translocation
    Variable band

  • Chandley A C, Christie S, Fletcher J M, Frackiewicz A, Jacobs P A: Translocation heterozygosity and associated subfertility in man. Cytogenetics 11:516-533, 1972. [PubMed: 4658180]
    Chandley A C, Seuanez H, Fletcher J M: Meiotic behavior of five human reciprocal translocations. Cytogenet. Cell Genet. 17:98-111, 1976. [PubMed: 975939]
    46,XX,t(9;22)(q12;p1).&"46,XX,t(9;22)(9pter -> 9q12::22p1 -> 22pter;22qter -> 22p1::9q12 -> 9qter)."
    M. R. C. Registry Nos. K68-32-70 and K68-149-70 in this report.
    46,XY,der(9)der(22)t(9;22)(q12;p1)mat.&Seminal analysis indicated azoospermia.
    M. R. C. Registry No. K68-178-69 in this report.
    Same case reported by Newton et al (1972) under 09q000.&"47,XY,+der(9)t(9;22)(q12;p1)mat."
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia
    Variable band

  • Christian J C, Dexter , R N, Palmer C G, Muller J: A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. AJMG 6:301-308, 1980. [PubMed: 6938130]
    Family No. 1523.
    46,XX and XY,9qh+,9qh+.
    Aberration: Marker chromosome
    Variable band

  • Conte R A, Gupta S, Brennan J P, Verma R S.: Rare variants of chromosome 9 with extra G positive band within the qh region are not alike. J. Med. Genet. 32:405-406, 1995. [PMC free article: PMC1050446] [PubMed: 7542346]
    Macera M J, Verma R S, Conte R A, Bialer M G, Klein V R.: Mechanisms of the origin of a G-positive band within the secondary constriction region of human chromosome 9. Cytogenet. Cell Genet. 69:235-239, 1995. [PubMed: 7698021]
    Verma R S, Luke S, Brennan J P, Mathews T, Conte R A, Macera M J: Molecular topography of the secondary constriction region (qh) of human chromosome 9 with an unusual euchromatic band. AJHG 52:981-986, 1993. [PMC free article: PMC1682060] [PubMed: 8488847]
    46,XX,9qh+.
    It is hypothesized that the extra band is from 9p12 and after it was sandwiched between the two blocks of heterochromatin, it became genetically inert.
    Aberration: Marker chromosome
    Chromosomal Aneuploidy: 9q+
    Index Terms: Heterochromatin
    Variable band

  • Dallapiccola B, Bollea G, Mazzilli C, Gandini E: "Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome." Hum. Genet. 33:73-76, 1976. [PubMed: 939560]
    45,XX,-9,-21,-22,+der(9)+der(21),t(9;21)(9;22)(q12;p13)(q12;q11).&"45,XX,-9,-21,-22,+der(9)+der(21)t(9;21)(9;22)(9pter -> 9q12::22q11 -> 22qter;21qter -> 21p13::9q12 -> 9qter)."
    Case 020667 in this report.
    46,XY,-22,+der(9)t(9;22)(q12;q11)mat.
    Aberration: Complex translocation
    Variable band

  • Deurloo K L, Cobben J M, Heins Y M, de Ru M, Wijnaendts L C D, van Vugt J M G.: Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report. Prenat. Diag. 24:796-798, 2004. [PubMed: 15503289]
    47,XX,+i psu dic(9)(pter->q12::q12->pter).
    Aberration: IC,DI
    MIM#: 220200
    Chromosomal Aneuploidy: 9p+
    Index Terms: Tetrasomy,Dandy-Walker malformation

  • Dhandha S, Hogge W A, Surti U, McPherson E.: Three cases of tetrasomy 9p. AJMG DOI=10.1002/ajmg.10826; 113:375-380, 2002. [PubMed: 12457411]
    Case 1=47,XX,+psu idic(9)(q12)-amnio, placenta, cord blood.,Case 2=47,XX,+psu idic(9)(q12)-amnio[13/15].
    All three patients had abnormal phenotype and the data are reviewed in an attempt to delineate a distinct phenotype.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+

  • Docherty Z, Hulten M A: Extra euchromatic band in the qh region of chromosome 9. J. Med. Genet. 22:156-157, 1985. [PMC free article: PMC1049410] [PubMed: 3989839]
    Docherty Z, Hulten M A: Rare variant of chromosome 9. AJMG 45:105-106, 1993. [PubMed: 8418640]
    var(9)(pter -> q12::?::q12 -> qter).
    The variant chromosome 9 was present in a trisomy 21 Down syndrome patient, a normal brother and their normal mother.
    Aberration: Marker chromosome
    Chromosomal Aneuploidy: 9q+
    Variable band

  • Faed M J W, Robertson J, Brown S, Smail P J, Muckhart R D: Pure partial trisomy for long arm of chromosome 9. J. Med. Genet. 13:239-242, 1976. [PMC free article: PMC1013401] [PubMed: 933125]
    46,XY,der(9),t(9;9)(q32;q12).&"46,XY,der(9),t(9;9)(I9pter -> I9q32::II9q12 -> II9qter)."&Both parents had normal karyotypes but 10% of the mother''s cells showed structural damage. Clinical data on this case and previously described cases are summarized. Features include severe developmental retardation, bird-like facies, tapered fingers and flexion contractures of the legs.
    Aberration: Simple translocation
    Index Terms: Developmental retardation,Face ... bird-like,Fingers ... tapered,Legs ... flexion contractures
    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]
    46,XX,t(9;15)(q12;q12).&"46,XX,t(9;15)(9pter -> 9q12::15q12 -> 15qter;15pter -> 15q12::9q12 -> 9qter)."
    Case 3 (DS) in this report.
    46,XY,-15,+der(9),t(9;15)(q12;q12)mat.&Detailed cytological studies will be discussed elsewhere.
    Aberration: Reciprocal translocation
    Variable band

  • Fernandez J L, Pereira S, Campos A, Gosalvez J, Goyanes V: An extra band within the human 9qh+ region that behaves like the surrounding constitutive heterochromatin. J. Med. Genet. 31:632-634, 1994. [PMC free article: PMC1050026] [PubMed: 7529317]
    46,XY,9qh+.
    Aberration: Marker chromosome
    Variable band

  • Fitzgerald P H: The nature and inheritance of an elongated secondary constriction on chromosome 9 of man. Cytogenet. Cell Genet. 12:404-413, 1973. [PubMed: 4134213]
    46,XX and XY,9qh+.&The variant chromosome was detected in 17 individuals belonging to three generations of a family. There were twice as many carriers as non-carriers suggesting disturbed segregation which is presumed to be consistent with the increased heterochromatin present.
    Aberration: Marker chromosome
    Variable band

  • Fujita H, Abe T, Yamamoto K, Furuyama J: "Possible complex translocation t(9;14;13)(q12;p1?;q31) in a mother of a child with 9p-trisomy syndrome." Humangenetik 25:83-92, 1974. [PubMed: 4140843]
    46,XX,-9,-13,-14,+t(9;13;14)(q12;q31;p1?).&"46,XX,-9,-13,-14,+t(9;13;14)(9pter -> 9q12::13q31 -> 13qter;13pter -> 13q31::14p1? -> 14pter;9qter -> 9q12::14p1? -> 14qter)."&"46,XX and XY,-9,-13,-14,+der(9)+der(13)+der(14)t(9;13;14)(q12;q31;p1?)mat."&"47,XY,-13,+der(9)+der(13)t(9;13;14)(q12;q31;p1?)mat."
    Aberration: Complex translocation
    Variable band

  • Hoo J J: A new chromosome 9 variant: an extra band within the 9qh region. Clin. Genet. 41:157-158, 1992. [PubMed: 1563090]
    Hoo J J, Szego K, Wong P, Roland B: Evidence of chromosome 9 origin of the euchromatic variant band within 9qh. Clin. Genet. 43:309-311, 1993. [PubMed: 8370151]
    46,XX,der(9qh+,an extra G-positive band)mat.
    The mother had an amniocentesis as the fetal ultrasound showed apparent hydrocephaly and spina bifida. At term the infant showed L4 spina bifida and mild hydrocephaly.
    The extra band was C-band negative.
    Aberration: Marker chromosome
    Variable band

  • Hsu L Y F, Benn P A, Tannenbaum H L, Perlis T E, Carlson A D: Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. AJMG 26:95-101, 1987. [PubMed: 3812584]
    Familial studies are not recommended for such polymorphisms.
    Aberration: Marker chromosome
    Variable band

  • Jenkins E C, Chaganti R S K, Wilbur L, German J: "Ambiguous genitalia and mental retardation associated with a translocation 46,XY,t(9;10) and a deletion in 9q." BD-OAS XII(No. 5):169-173, 1976. [PubMed: 953219]
    46,XY,t(9;10)(q125;q25)del(9)(q125 -> q21).,"46,XY,t(9;10)(9pter -> 9q125::10q25 -> 10qter;10pter -> 10q25::9q21 -> 9qter)del(9)(9q125 -> 9q21).",Same case was reported earlier by German, J and J L Simpson: BD-OAS VII(No. 6):145-149, 1971.
    Aberration: RT,ID
    Index Terms: Genitalia ... ambiguous
    Variable band

  • Junge A, Domke N, Tolkendorf E: Cytogenetic investigation of peripheral lymphocyte cultures in couples with habitual abortions. Zent. Bl. Gynakol. 113:1046-1058, 1991. [PubMed: 1962519]
    Some cases of 9qh+ polymorphism were found.
    Aberration: Marker chromosome
    Index Terms: Habitual abortions
    Variable band

  • Kadotani T, Watanabe Y, Sawano K: A case of partial trisomy for the short arm of chromosome 9. Proc. Jpn. Acad. (Ser. B) 60:9-12, 1984.
    46,XX,t(9;22)(q12;p11).&"47,XY,+der(9)t(9;22)(qq12;p11)."
    Aberration: Simple translocation
    Variable band

  • Kyaosaar M E, Mikelsaar A V N, Talvik T A, Mikelsaar R V A: A case of trisomy for the short arm of chromosome No. 9 (+9(p)). Hum. Genet. 34:77-80, 1976. [PubMed: 965010]
    Subject M.L. (280969) in this report.
    47,XX,+9ph+.&47,XX,+9(9pter -> 9q12).&"The karyotypes of the parents of the proband were normal but with some microvariants: 46,XX,1qh+,Gps and 46,XY,9qh+,16qh+. It is hypothesized that the aberrant chromosome in the proband arose ""de novo."""
    Aberration: Terminal deletion
    Variable band

  • Leegte B, Sikkema-Raddatz B, Hordijk R, Bouman K, van Essen T, Castedo S, de Jong B.: Three cases of mosaicism for balanced reciprocal translocations. AJMG 79:362-365, 1998. [PubMed: 9779802]
    Case 1:
    Mother, blood specimen 1=46,XX,t(9;15)(q12;p11.2)[8/25]/46,XX; , 2=46,XX,t(9;15)(q12;p11.2)[3/14]/46,XX., Son, blood=46,XY,der t(9;15)(q12;p11.2)mat[14}.
    The son was examined because of infertility. Mother was 58 years old G6P4. No phenotypic abnormalities were detected in either of them.
    Aberration: Reciprocal translocation

  • Lindgren V, Rosinsky B, Chin J, Berry-Kravis E: Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. AJMG 49:67-73, 1994. [PubMed: 8172253]
    Patient 1:
    46,XX,ins dup(9)(9qter -> 9q13::9q33.2 -> 9q12::9q13 -> 9qter).
    Patient is 16 months with MCA and growth retardation.
    Aberration: II,DU
    MIM#: 188400
    Chromosomal Aneuploidy: 9q+
    Index Terms: Di George syndrome
    Variable band

  • Madan K: An extra band in human 9qh+ chromosomes. Hum. Genet. 43:259-264, 1978. [PubMed: 700700]
    Madan K, Bobrow M: Structural variation in chromosome no. 9. Ann. Genet. 17:81-86, 1974. [PubMed: 4139929]
    46,XX and XY,9qh+.&Chromosome analysis of G-banded cells from nine individuals showed that 9qh+ chromosomes have an extra band in the h region in approximately 3-50% of the cells.
    Aberration: Marker chromosome
    Variable band

  • Melaragno M I, Brunoni D, da Silva Patricio F R, Corbani M, Mustacchi Z, de Cassia Stocco dos Santos R, Lederman H M: A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann. Genet. 35:79-84, 1992. [PubMed: 1524413]
    47,XY,+idic(9)(pter -> q12::q12 -> pter).
    Patient had MCA and died after 8 months.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 9p+
    Index Terms: Dandy-Walker ... malformation,Hirschsprung disease
    Variable band

  • Mikelsaar A V N, Tuur S J, Kyaosaar M E: Human karyotype polymorphism. I. Routine and fluorescence microscopic investigation of chromosomes in a normal adult population. Humangenetik 20:89-101, 1973. [PubMed: 4785172]
    46,XX and XY,9qh+.
    Aberration: Marker chromosome
    Variable band

  • Nakahori Y, Nakagome Y: A malformed girl with duplication of chromosome 9q. J. Med. Genet. 21:387-388, 1984. [PMC free article: PMC1049326] [PubMed: 6502654]
    46,XX,dir dup(9)(q12 -> q32).&Parental karyotypes were normal.
    Aberration: Direct duplication
    Variable band

  • Nielsen J, Friedrich U, Hreidarsson A B, Zeuthen E: Frequency of 9qh+ and risk of chromosome aberrations in the progeny of individuals with 9qh+. Humangenetik 21:211-216, 1974. [PubMed: 4136265]
    The authors concluded that 9qh+ probably represents a duplication and it was present with a 0.1% frequency in the five populations studied. The individuals possessing the variant have an increased risk of chromosome abnormalities in the progeny.
    Aberration: Marker chromosome
    Variable band

  • Page B M: Identification of chromosome 9 in human male meiosis. Cytogenet. Cell Genet. 12:254-263, 1973. [PubMed: 4752867]
    Subjects JB and CMC in this report.
    Giemsa banding technique allowed the identification of this marker chromosome.
    Aberration: Marker chromosome
    Variable band

  • Palmer C G, Schroder J: A familial variant of chromosome 9. J. Med. Genet. 8:202-207, 1971. [PMC free article: PMC1469008] [PubMed: 5096543]
    Aberration: Marker chromosome
    Variable band

  • Papenhausen P, Riscile G, Miller K, Kousseff B G, Tedesco T: Tissue limited mosaicisim in a patient with tetrasomy 9p. AJMG 37:388-391, 1990. [PubMed: 2260570]
    mos46,XX/47,XX,+idic(9)(pter -> q12::q12 -> pter).
    The infant was hypotonic, elevated nasal bridge, epicanthal folds, high arched palate, micrognathia, hypoplastic 3rd and 4th fingers, syndactyly on the right hand, and absence of nails on the left 2nd, 3rd, and 4th fingers, equinovarus feet with hypoplasia of the great toes bilaterally.
    Enzyme assays (GALK) confirmed the cytogenetic interpretation.
    Aberration: IC,DI
    Chromosomal Aneuploidy: 9p+
    Variable band

  • Park J P, Rawnsley B E, Marin-Padilla M.: Tetrasomy 9p syndrome. Ann. Genet. 38:54-56, 1995. [PubMed: 7625761]
    47,XY,+i(9p)(pter->q12->pter).
    The baby died 30 minutes after birth.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    Variable band

  • Pettenati M J, Jackle B, Bobby P, Stewart W, Von Kap-Herr C, Mowrey P, Rao P N, May K M.: Unexpected retention and concomitant loss of subtelomeric regions in balanced chromosome anomalies by FISH. AJMG 111:48-53; DOI=10.1002/ajmg.10535, 2002. [PubMed: 12124733]
    Case 1:
    46,XX,t(9;11)(q12;q25).
    Family had a history of miscarriages.
    The derived chromosome 11 showed sub-telomeric regions of 11p, 11q, and 9q.
    Aberration: Reciprocal translocation

  • Reshmi-Skarja S, Huebner A, Handschug K, Finegold D N, Clark A J L, Gollin S M.: Chromosomal fragility in patients with triple A syndrome. AJMG DOI=10.1002/ajmg.10846, 2002. [PubMed: 12548737]
    13/900 cells analyzed, from a series of family members with AAAS (alacrima, achalasia, and adrenal insufficiency) syndrome, showed fragility, breaks at band 9q12.
    Aberration: Marker chromosome
    MIM#: 231550
    Index Terms: AAAS syndrome

  • Rodriguez-Gomez M T, Martin-Sempere M J, Abrisqueta J A: C-band length variability and reproductive wastage. Hum. Genet. 75:56-61, 1987. [PubMed: 3804333]
    "---results indicate that these variabilities are not directly related to reproductive wastage."
    Aberration: Marker chromosome
    Variable band

  • Roland B, Chernos J E, Cox D M: 9qh+ variant band in two families. AJMG 42:137-138, 1992. [PubMed: 1308354]
    Whatever the structure of these bands, it is important to demonstrate their inheritance from a normal individual and therefore their presumed lack of clinical significance.
    Aberration: Marker chromosome
    Variable band

  • Sparkes R S, Epstein P A, Kidd K K, Klisak I, Sparkes M C, Crist M, Morton L A: Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh. AJHG 32:188-193, 1980. [PMC free article: PMC1686012] [PubMed: 6247907]
    Aberration: Marker chromosome
    Variable band

  • Stalker H J, Ayme S, Delneste D, Scarpelli H, Vekemans M J J, Der Kaloustian V M: Duplication of 9q12-9q33: a case report and implications for the dup(9q) syndrome. AJMG 45:456-459, 1993. [PubMed: 8465850]
    Patient S.L.
    46,XY,dir dup(9)(q12-q33)de novo.
    The child was evaluated because of dysmorphic fetures.
    Aberration: Duplication
    Chromosomal Aneuploidy: 9q+
    Variable band

  • Stamberg J, Thomas G H: Unusual supernumerary chromosomes: types encountered in a refereed population, and high incidence of associated maternal chromosome abnormalities. Hum. Genet. 72:140-144, 1986. [PubMed: 3455921]
    Case 1, father had inv(9)(p11q12)
    47,+9q-(pter -> q12:)
    Aberration: Terminal deletion
    Variable band

  • Stoll C, Levy J M, Gardea A: "Trisomy 9p in a girl whose mother has a translocation t(9;20)(q12;p13)." Humangenetik 27:269-274, 1975. [PubMed: 1150249]
    46,XX,t(9;20)(q12;p13).&"46,XX,der(9)(20)t(9;20)(q12;p13)mat."
    Patient Celine (070773) in this report.
    47,XX,+der(9)t(9;20)(q12;p13)mat.
    Aberration: Simple translocation
    Variable band

  • Stumm M, Tonnies H, Mandon U, Gotze A, Krebs P, Wieacker P F.: Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies. Europ. J. Ped. 158:571-575, 1999. [PubMed: 10412817]
    47,XX,+psu dic(9)(pter->q12::q12->pter).
    The 16 year old patient presented because of severe MR and MCA.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: 9p+

  • Teraoka M, Narahara K, Yokoyama Y, Ninomiya S, Mizuta S, Une T, Seino Y.: Maternal origin of a unique extra chromosome, der(9)(pter->q13::q13->q12:) in a girl with typical trisomy 9p syndrome. AJMG 102:25-28, 2001. [PubMed: 11471168]
    47,XX,+der(9)(pter->q13::q13->q12:)de novo
    Studies on six highly polymorphic markers, showed that the girl had inherited one allele from her father and two alleles from the mother.

  • Tihy F, Lemyre E, Dallaire L, Lemieux N.: Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p. AJMG 91:383-386, 2000. [PubMed: 10767003]
    47,XX,+der(9)t(9;22)(q12;p11).
    The patient was 7 months old with MCA.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 9p+

  • Tommerup N: Specific staining of 9h in human somatic interphase cells by D287/170. Hum. Genet. 62:301-304, 1982. [PubMed: 6187659]
    Aberration: Marker chromosome
    Variable band

  • Tonk V S.: Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival. Clin. Genet. 52:23-29, 1997. [PubMed: 9272709]
    47,XX,+mar.ish,idic(9)(q12)(WCP9)
    The patient was 3 years old and continues to be followed. She has VSD, patent ductus arteriosus, left hemi-facial microsomia and a single palmer crease on the left hand.
    Aberration: IC,DI
    Chromosomal Aneuploidy: 9p+
    No band

  • Uchida I A, Freeman 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 Nos. 1093 to 1095.
    46,XX,t(9;12)(q12;q24)mat.
    Aberration: Reciprocal translocation
    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,XX,t(9;15)(q12;p11).
    46,XY,t(9;15)(q12;p11.2).
    Aberration: Reciprocal translocation
    Variable band