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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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12p120

12p12
  • Same entry as in 06q230,07q220 (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(12;21)(p12;p12).
    Aberration: Reciprocal translocation
    Positive band
  • Calabrese G, Morizio E, Franchi P G, Stuppia L, Palka G, Mingarelli R.: De novo complex chromosome rearrangement detected by flourescence in situ hybridization on amniotic fluid cells. AJMG 75:414-415, 1998. [PubMed: 9482649]
    46,XX,inv(12)(p12q22)t(12;16)(p13;q22)de novo
    Case was ascertained because of abnormal triple screen test and the pregnancy terminated.
    Aberration: CT,PI
  • Crandall B, 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. 1310.
    46,XX,inv(12)(p12q14).
    Aberration: Inversion pericentric
    Positive band
  • Gollin S 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. 979.
    46,XX,t(12;19)(p12;p12).
    Aberration: Reciprocal translocation
    Positive band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case IV-10 from Brotham A R.
    mos46,XY/46,XY,del(12)(p12)[7.3%]. Cord blood=46,XY.
    Normal male liveborn.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 12p-
    Positive band
  • Kleczkowska A, Fryns J P, Van den Berghe H: Pericentric inversions in man: personal experience and review of the literature. Hum. Genet. 75:333-338, 1987. [PubMed: 3570287]
    46,XY,inv(12)(p12q15).
    Aberration: Inversion pericentric
    Positive band
  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    46,XX,dup(12)(p12p13).
    Aberration: Duplication
    Chromosomal Aneuploidy: 12p+
    Index Terms: High resolution G-banding
    Positive 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 27: 86-443.
    The fetal karyotype was normal.
    46,XY,t(12;14)(p12;q12).
    Aberration: Reciprocal translocation
    Positive band
  • Serville F D, Junien C, Kaplan J C, Gachet M, Cadoux J, Broustet A: Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p. Hum. Genet. 45:63-69, 1978. [PubMed: 730182]
    46,XX,t(12;18)(p12;q11).,46,XX,der(12)der(18)t(12;18)(p12;q11)mat.,47,XX,+der(18)t(12;18)(p12;q11)mat.,47,XX,+der(18)t(12;18)(18pter -> 18q11::12p12 -> 12pter)mat.,The patient was an 8-year-old girl with profound mental retardation. Gene dosage effect allowed the assignment of the gene for triosephosphate isomerase and glyceraldehyde-3-phosphate to the tip of the 12p.
    Aberration: Simple translocation
    Positive band
  • Tekin M, Jackson-Cook C, Pandya A.: De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon. AJMG DOI=10.1002/ajmg.10025;104:42-46, 2001. [PubMed: 11746026]
    46,XY,inv dup(12)(p13.3p12)de novo
    The patient was being evaluated for dysmorphism including hearing loss and microblepharon.
    Aberration: Duplication
    Chromosomal Aneuploidy: 12p+
    Index Terms: Microblepharon
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106860
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