12p130

12p13

Publication Details

  • Antonella V, Pantaleo G, Irma C A, Savino C, Selvaggi L.: Pallister-Killian syndrome presenting through nuchal oedema: cytogenetic investigation and parental origin by molecular analysis in a new case. Prenat. Diag. 24:229-230, 2004. [PubMed: 15057960]
    47,XX+mar.ish der(12)(p13->q10::q10->p13).wcp12p.
    Postmortem examination confirmed a left-sided diaphragmatic hernia, growth restriction with evidence of rhizomelic micromelia and nuchal oedema.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+

  • Bauer S N, 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. 1312.
    46,XX,inv(12)(p13q11)pat.
    Aberration: Inversion pericentric
    Negative band

  • Same entry as in 02q310,05q210 (Boue and Gallano, 1984).

  • Same entry as in 04q250,07q110 (Daniel, 1979).

  • 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 80-348.
    t(12;14)(p13;q13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Dignan P, Krouskop L, 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. 980 and 981.
    46,XX & XY,t(12;20)(p13;p11)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Haagerup A, Hertz J M: "Pericentric inversion of chromosome 12; a three family study." Hum. Genet. 89:292-294, 1992. [PubMed: 1601419]
    25 carriers were identified among 52 screened in the three families studied.
    46,XX and XY,inv(12)(p13q13)mat and pat.
    No abnormalities were found]
    Aberration: Inversion pericentric
    Negative band

  • Hamerton J L, Ray M, Douglas G R: Chromosome banding techniques in clinical cytogenetics. Nobel Symposium 23:209-213, 1973.
    Case IV, TH (140671 WCH-5303) in this report.
    46,XX,r(12)(p13->q24).
    Aberration: Ring chromosome
    Negative band

  • Harris D L, Siu B L, Hummel M, Harbert K, Senfit J, Sargent L, Wenger S L.: Mosaic ring 12p and total anomalous pulmonary venous return. AJMG DOI=10.1002/ajmg.a.30315; 131A:91-93, 2004. [PubMed: 15389698]
    47,XY,+r(12)(p13q11)[13]/46,XY[7].
    The patient underwent surgical correction of anomalous pulmonary venous return and other heart defects during the neonatal period and has done well when examined at the age of 8 months.
    Aberration: Ring chromosome
    MIM#: 106700
    Chromosomal Aneuploidy: 12p+
    Index Terms: Total anomalous pulmonary venous return (TAPVR)

  • Higgins J V, Center J, 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. 972.
    46,XX,t(12;15)(p13;q24).
    Aberration: Reciprocal translocation
    Negative band

  • Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T.: Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. Europ. J. Med. Genet. DOI=10.106/jejmg.2010.02009, 2010. [PubMed: 20219705]
    47,XY,+mar(14p13->14q12::14q21.3->14q21.3::12p12.3->12p13.33).,ish +der(14)t(12;14)(RP11-359B12+,RP11-14J7+,Rp11-321F3+).
    The patient was 1 year 8 months old with MCA anomalies.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 12p+
    Index Terms: PKS

  • Isada N B, Hume R F, Jr, Reichler A, Johnson M P, Klinger K W, Evans M I, Ward B E.: Fluorescent in situ hybridization and second-trimester sonographic anomalies: uses and limitations. Fetal Diag. Ther. 9:367-370, 1994. [PubMed: 7880432]
    Case 1:
    46,XY,-12,+der(12)t(12;13)(p13;q14.1).
    The 20 week fetus had unilateral 5-mm choroid plexus cyst and clubbing of one foot.
    The region specific for the pericentromeric probe (13q13, 97kb) was not present in the translocated segment.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 13q+
    Negative band

  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case No. 28=46,XX,add(12p).rev ish rec(12)dup(12)inv(12)(p13q13),dim(12p12->pter)enh(12q13->qter)mat.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 12p-;12q+

  • Lagier-Tourenne C, Ginglinger E, Alembik Y, De Saint Martin A, Peter M O, Dulucq P, Jon veaux P, Jeandidier E.: Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12. AJMG DOI=10.1002/ajmg.a.20450; 125A:77-85, 2003 and 2004. [PubMed: 14755471]
    Patient 1=46,XY,rec(12)dup(12q)inv(12)(p13q24.3)pat.,46,XY,add(12)(p13).ish add(12)(p13)(wcp12+).,Patient 2=46,XX,rec(12)dup(12q)inv(12)(p13q24.3)mat.
    Both cousins suffered from severe MR, seizures, and dysmorphic features.
    A good review of the aneusomies of 12p and 12q.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 12p-;12q+

  • 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]
    Chromosomal Aneuploidy: 12p and q+
    Index Terms: SMC,AcroM

  • Midro A T, Stengel-Rutkowski S, Stene J: Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 41:113-122, 1992. [PubMed: 1563084]
    Family 9: Patient cited in the Repository/Registry.
    46,XX,t(12;16)(p13;p11)mat.
    Risk estimates for carriers detected among couples with reproductive failures are presented.
    Aberration: Reciprocal translocation
    Negative band

  • Same entry as in 03q120,04p150 (Neri et al, 1983).

  • Orye E, Craen M, Laureys G, van Coster R, van Mele B: "Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome." J. Med. Genet. 22:222-224, 1985. [PMC free article: PMC1049428] [PubMed: 4009644]
    t(Y;12)(q11;p13).
    Aberration: Simple translocation
    Negative band

  • Parmar R C, Muranjan M N, Kotvaliwale S, Sharma S, Bharucha B A.: Ring chromosome 12 with variable phenotypic features: clinical report and review of the literature. AJMG 117A:275-277, 2003. [PubMed: 12599192]
    46,XX,r(12)(p13q24.33)de novo
    The 15 year old was referred because of academic dificulties and growth delay. She also had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD).
    Aberration: Ring chromosome

  • Pedersen C: Letter to the Editor. Clin. Genet. 9:378-380, 1976. [PubMed: 1261077]
    46,XX,t(12;15)(p13;q25).
    Patient 000671 in this report.
    46,XY,-12,+der(12)t(12;15)(p13;q25)mat.&"46,XY,-12,+der(12)t(12;15)(12qter -> 12p13::15q25 -> 15qter)mat."&The patient with partial trisomy of 15, for region q25 -> qter, had cloverleaf skull syndrome/anomaly and died at age of three years, five months.
    Aberration: Simple translocation
    Negative band

  • Prieto F, Badia L, Asensi F, Moya A, Figuera M J: Pericentric inversions of chromosome 12 in two families. Hum. Genet. 57:131-133, 1981. [PubMed: 6453076]
    Case 1.
    46,XX,der inv(12)(p13q11)pat.
    Case 2.
    47,XX,+21,der inv(12)(p13q13)mat.
    Aberration: Inversion pericentric
    Negative band

  • Richkind K E, 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. 1313.
    46,XX,inv(12)(p13q15)pat.
    Aberration: Inversion pericentric
    Negative band

  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
    Case 28: 84-183.
    The fetal karyotype was normal.
    46,XY,t(12;14)(p13;q24).
    Aberration: Reciprocal translocation
    Negative band

  • Scribanu N, McCullars E B, Baumiller R C, Colon A R: The syndrome of ring chromosome 12. AJMG 5:165-170, 1980. [PubMed: 7395909]
    46,XX,r(12)(p13q24).
    Patient was 13 months old and had multiple congenital anomalies.
    Aberration: Ring chromosome
    Negative band

  • Shapiro L R: Pitfalls in genetic counseling for childhood disorders: The pediatricians role. Am. J. Dis. Child. 147:1253-1254, 1993. [PubMed: 8237922]
    Shapiro L R, Graves Z R, Warburton D, Huss H A: Autosomal aberrations and gonadal dysgenesis. AJHG 26:79A, 1974.
    Warburton D, Henderson A S, Shapiro L R, Hsu L Y F: "A stable human dicentric chromosome, tdic(12;14)(p13;p13) including an intercalary satellite region between centromeres." AJHG 25:439-445, 1973. [PMC free article: PMC1762447] [PubMed: 4716663]
    45,XX,tdic(12;14)(12qter->12p13::14p13->14qter).
    Aberration: ST,DI
    Index Terms: Gonadal dysgenesis
    Negative band

  • Varela 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]
    Varela M, Wang N, Cerrillo M: Prenatal diagnosis of a 46,XX,inv(12)pat/47,XX,+i(Xq),inv(12)pat. Hum. Genet. 75:93-94, 1987. [PubMed: 3804337]
    Father: 46,XY,inv(12)(p13q22).
    46,XX,inv(12)(p13q22)pat(54)/47,XX,+i(Xq)inv(12)(p13q22)(46).
    Observation No. 1314.
    47,XX,+i(Xq),inv(12)(p13q23)pat.
    Aberration: Inversion pericentric
    Negative band

  • 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]
    46,XY,t(12;15)(p13;q24).
    Aberration: Simple translocation
    Negative band

  • Willatt L, Green A J, Trump D.: Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect. J. Med. Genet. 38:723-727, 2001. [PMC free article: PMC1734732] [PubMed: 11594344]
    12ps
    One family was ascertained during prenatal diagnosis.
    Aberration: MA,SAT
    Index Terms: Satellited 12p

  • Zuffardi O, Danesino C, Poloni L, Pavesi F, Bianchi C, Gargantini L: Ring chromosome 12 and latent centromeres. Cytogenet. Cell Genet. 28:151-157, 1980. [PubMed: 7438790]
    Patient D. S., 4 y.o. male. Parents'' chromosomes were normal. Father and mother were 33 and 29 years old respectively.
    46,XY,r(12)(p13q245).&Claimed as first report of a ring 12 chromosome by the authors. A small, thin boy with peculiar facies, low-set ears, and prominent nose.
    Aberration: Ring chromosome
    Index Terms: Ears ... low-set,Face ... anomalies
    Negative band