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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Albert A P, Holdsworth J, Massyn C: A pericentric inversion duplication of the subcentromeric region of chromosome 12q. J. Med. Genet. 23:371, 1986. [PMC free article: PMC1049712] [PubMed: 3746844]
    Patient was one year old with dysmorphic features and developmental delay. Parental chromosomes were normal.
    46,XX,dup(12p)(q11 -> q12).
    Aberration: Inverted insertions within a chromosome
    No band
  • Armendares S, Salamanca F, Nava S, Ramirez S, Cantu J M: The 12p trisomy syndrome. Ann. Genet. 18:89-94, 1975. [PubMed: 1081370]
    Case III-6 (170671) in this report.
    46,XX,der(21)rcp(12;21)(p11;p11)mat.,There is partial trisomy for 12p region in this individual.
    Aberration: Reciprocal translocation
    No band
  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
    Hyderocephaly and club foot was noted by ultrasound at 20 weeks. MCA were noted at the time of termination of pregnancy.
    Aberration: Inversion pericentric
  • Biederman B, Bowen P, Robertson C, Schiff D: "Partial trisomy 12p due to t(12;21)pat translocation." Hum. Genet. 36:35-41, 1977. [PubMed: 858622]
    46,XY,t(12;21)(12qter->12p11::21p13->21pter?;21qter->21p13 or 21pter::12p11->12pter).
    Proband (S.N. 200975) in this report.
    46,XX,-21,+der(21)t(12;21)(p11;p13 or pter)pat.,The infant''s features were psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose and hypotonia.
    Aberration: Reciprocal translocation
    Index Terms: Esotropia ... alternating,Forehead ... prominent,Hypotonia,Ptosis
    No band
  • Boilly-Dartigalongue B, Riviere D, Junien C, Couturier J, Toudic L, Marie F, Castel Y: A new case of partial monosomy 12, del(12)(p1101 to 12.109), confirming the assignment of the lactico-dehydrogenase B. Ann. Genet. 28:55-57, 1985. [PubMed: 3874590]
    Patient was 17 years old.
    46,XX,del(12)(p11 -> p12.1).
    Aberration: Interstitial deletion
    No band
  • Same entry as in 08p120,08q110,10p150 (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;15)(p11;q11); inv(12)(p11q14).
    Aberration: PI,RT
    No band
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    Registry No. 0812 in this report.
    Aberration: Reciprocal translocation
    Index Terms: Metabolic disorders
    No band
  • Same entry as in 04p160,06q270 (De et al, 1986).
  • Fineman R, Morgan 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. 977.
    Aberration: Reciprocal translocation
    No band
  • Fryns J P, Van der Hauwaert L G, Dumoulin M, Van den Berghe H: The Elfin face syndrome and short arm of chromosome 15. Ann. Genet. 25:181-182, 1982. [PubMed: 6982672]
    Patient, P. W., was 16 years old. Parental karyotypes were normal.
    Aberration: Whole-arm translocations
    Index Terms: Face ... pixie-like
    No band
  • Guerrini R, Bureau M, Mattei M G, Battaglia A, Galland M C, Roger J: Trisomy 12p syndrome: A chromosomal disorder associated with generalized 3-Hz spike and wave discharges. Epilepsia 31:557-566, 1990. [PubMed: 2401247]
    Tenconi R, Baccichetti C, Anglani F, Pellegrino P A, Kaplan J C, Junien C: "Partial deletion of the short arm of chromosome 12(p11;p13)." Ann. Genet. 18:95-98, 1975. [PubMed: 1081371]
    Tenconi R, Giorgi P L, Tarantino E, Formica A: Trisomy 12p due to an adjacent I segregation of a maternal reciprocal translocation. Ann. Genet. 21:229-233, 1978. [PubMed: 314261]
    Case F.M. (220474) in this report.
    A 5-year-9-month-old boy with trisomy 12p due to a maternal reciprocal translocation adjacent I segregation is presented. Comparison of his phenotype with that of other patients reported in the literature confirm the existence of a trisomy syndrome.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 12p+,12p-
    No band
  • He X, Xia J, Li L, Dai H, Lu H: Study on cytogenetics of a case with pericentric inversion in chromosome 12. Hereditas (Beijing) 4:14-15, 1982.
    Aberration: Inversion pericentric
    No 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,XX or XY,inv(12)(p11q13)mat or pat.
    Aberration: Inversion pericentric
    No band
  • Mattei M G, Mattei J F, Vidal I, Giraud F: Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding Robertsonian translocations. Hum. Genet. 54:365-370, 1980. [PubMed: 6156888]
    Aberration: Simple translocation
    No band
  • Same entry as in 04q250,10p130 (Nielsen et al, 1976).
  • Parslow M I, Chambers D, Drummond M, Hunter W: "Two cases of trisomy 12p due to rcp t(12;21)(p11;p11) inherited through three generations." Hum. Genet. 47:253-260, 1979. [PubMed: 457115]
    46,XX and XY,der(12)der(21)t(12;21)(p11;p11)mat and pat.
    Cases DN and LF in this report.
    46,XX and XY,-21,+der(21)t(12;21)(p11;p11)mat and pat, respectively.&"46,XX and XY,-21,+der(21)t(12;21)(p11;p11)(21qter -> 21p11::12p11 -> 12pter)mat and pat, respectively."&"Features similar to 12p trisomy cases were psychomotor retardation; hypotonia; postural deformities; flat, round face with prominent cheeks; bilateral epicanthic folds; broad flat bridge of the nose; anteverted nostrils and prominent philtrum; open mouth and protruding tongue; prominent everted lower lip; low-set, abnormally shaped ears; spade-shaped fingers; increased space between first and second toes; abnormal skeletal maturation; abnormal dermatoglyphics."
    Aberration: Simple translocation
    Index Terms: Ears ... low-set malformed,Epicanthal folds,Face ... broad, round flat,Fingers ... spade shaped,Hypotonia,Lips ... everted lower,Mouth ... open,Philtrum ... prominent,Toes ... widely spaced,Tongue ... protruding
    No band
  • Ray M, Chudley A E, Christie N, Seargeant L: A case of de novo trisomy 12p syndrome. Ann. Genet. 28:235-238, 1985. [PubMed: 3879436]
    Patient S.R. was 15 months old.
    Aberration: Whole-arm translocations
    No band
  • Rethore M O, Kaplan J C, Junien C, Lejeune J: 12pter to 12p12.2: Possible assignment of human triose phosphate isomerase. Hum. Genet. 36:235-237, 1977. [PubMed: 858628]
    Red cell triose phosphate isomerase was determined, together with other enzymes, in three patients with chromosome 12 abnormalities. In patient No. 1 (trisomy of the segment 12pter -> 12q12) and in patient No. 2 (trisomy of the segment 12pter -> 12p121), the TPI activity was significantly increased. In patient No. 3 (deletion of the segment 12p11 -> 12p122) the TPI activity was in the normal range. It is suggested that the human TPI locus is located on the chromosome 12 short arm between 12pter and 12p122.
    MIM#: 190450
    No band
  • Riccardi V M, Hittner H M, Francke U, Pippin S, Holmquist G P, Kretzer F L, Ferrell R E: Partial triplication and deletion of 13q: Study of a family presenting with bilateral retinoblastomas. Clin. Genet. 15:332-345, 1979. [PubMed: 436330]
    Proband''s sister TCH #568586.
    Proband TCH #544168 in this report.
    Aberration: Direct insertion between two chromosomes
    Index Terms: Retinoblastoma
    No band
  • Suerinck E, Suerinck A, Kaplan J C, Meyer J, Junien C, Noel B, Rethore M O: "Trisomie 12p par malsegregation d''une translocation paternelle t(12;22)(p11;p11)." Ann. Genet. 21:243-246, 1978. [PubMed: 314265]
    46,XY,t(12;22)(p11;p11).&"46,XY,der(22),t(12;22)(p11;p11)pat."&46,XY,der(22)(22qter -> 22p11::12p11 -> 12pter)pat.&Pure trisomy 12p was observed in an 18-year-old boy. The patient''s phenotype is compared to that of infants with trisomy 12p and of adolescents with trisomy 21.
    Aberration: Simple translocation
    No band
  • Uehara S, Takabayashi T, Okamura K, Yajima A: The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier. Prenat. Diag. 12:1009-1018, 1992. [PubMed: 1287636]
    The karyotype nomenclature of the fetus is not in conformity with ISCN (ie is it 12p+ or is it partial trisomy for 12p?).
    Aberration: Whole-arm translocations
    No band
  • von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G, Kotzot D, Liehr T.: Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11->q11:)/46,XX karyotype. J. Med. Genet. 39:519-521, 2002. [PMC free article: PMC1735169] [PubMed: 12114487]
    The case was ascertained during prenatal diagnosis because of advanced maternal age. Birth and follow-up was discontinued after 6 weeks because of normality of the baby.
    Aberration: Uniparental disomy
    Chromosomal Aneuploidy: 12p and q+
  • Watt J L, Couzin D A, Lloyd D J, Stephen G S, McKay E: A familial insertion involving an active nucleolar organiser within chromosome 12. J. Med. Genet. 21:379-384, 1984. [PMC free article: PMC1049324] [PubMed: 6502652]
    46,XY,inv ins(12;21)(p11;p12q11).&"46,XY,inv ins(12;21)(12qter -> 12p11::21p12 -> 21q11::12p11 -> 12pter)."
    Aberration: Inverted insertions between chromosomes
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107120


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