- 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 translocationPositive 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 novoCase 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 pericentricPositive 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 translocationPositive 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 deletionChromosomal 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 pericentricPositive 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: DuplicationChromosomal Aneuploidy: 12p+Index Terms: High resolution G-bandingPositive 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 translocationPositive 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 translocationMIM#: 190450,138400Positive 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 novoThe patient was being evaluated for dysmorphism including hearing loss and microblepharon.Aberration: DuplicationChromosomal Aneuploidy: 12p+Index Terms: Microblepharon
Publication Details
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 12p120.