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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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  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 15653 in this report.
    Aberration: Reciprocal translocation
    Positive band
  • Ayme S, Mattei M G, Mattei J F, Giraud F: Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents. Hum. Genet. 48:7-12, 1979. [PubMed: 457136]
    Giraud F, Mattei J F, Mattei M G, Ayme S: Les inversions pericentriques. A propos de 47 observations. J. Genet. Hum. 27:109-122, 1979. [PubMed: 161573]
    Case, report No. 3, 17 months old was studied because of small size and motor retardation.
    46,XX,inv(2)(p12q14).&46,XX and XY,der inv(2)(p12q14).
    Aberration: Inversion pericentric
    Index Terms: Motor retardation
    Positive band
  • 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(2;5)(p12;q35); inv(2)(p12q14).
    Aberration: PI,RT
    Positive band
  • Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia M C, Priolo E, Lagana C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E.: Reciprocal translocations: a trap for cytogeneticists? Hum. Genet. DOI=10.1007/s00439-005-1324-x;117:571-582, 2005. [PubMed: 16041583]
    Patient 3 (LL):
    The 6 year old was ascertained for developmental delay and ataxic gait. She showed mild facial dysmorphism, including hypertelorism with bilateral epicanthus, down-slanted palpebral fissures, low-set ears, ogival palate.
    Aberration: RT,IX,ID
    Chromosomal Aneuploidy: 4p-
  • Djalali M, Steinbach P, Bullerdiek J, Holmes-Siedle M, Verschraegen-Spae M R, Smith A: The significance of pericentric inversions of chromosome 2. Hum. Genet. 72:32-36, 1986. [PubMed: 3943862]
    Case 1:
    Aberration: Inversion pericentric
    Positive band
  • Fryns J P, Kleczkowska A, Moerman F, Van Den Berghe K, Van Den Berghe H: The fetal phenotype in 2p trisomy. Ann. Genet. 29:269-231, 1986. [PubMed: 3495231]
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+
    Positive band
  • Gelman-Kohan Z, Rosensaft J, Ben-Cohen R N, Chemke J: Homozygosity for inversion (2)(p12q14). Hum. Genet. 92:427, 1993. [PubMed: 8225326]
    A brother and a sister.
    46,XX and XY,inv(2)(p12q14),inv(2)(p12q14)mat and pat.
    The carrier individuals, hetero- and homo-zygotes, were normal.
    Aberration: Inversion pericentric
    Index Terms: Homozygotes ... inversion carrier,Inversion carrier ... homozygotes
    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]
    Aberration: Inversion pericentric
    Positive band
  • Lautner-Rieske A, Hameister H, Barbi G, Zachau H G: Mapping immunoglobulin gene-related DNA probes to the central region of normal and pericentrically inverted human chromosome 2. Genomics 16:497-502, 1993. [PubMed: 8314587]
    Patient AT.
    The inversion was ascertained during prenatal workup.,It is thought that the breakpoints in most chromosome 2 inversions are p12q14.
    Aberration: Inversion pericentric
    Index Terms: Immunoglobulin
    Positive band
  • Lim A S T, Lim T H, Kee S K, Chieng R, Tay S K.: Sperm segregation patterns by fluorescence in situ hybridization studies of a 46,XY,t(2;6) heterozygote giving rise to a rare triploid product of conception with a 69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p12;q24)pat karyotype. AJMG DOI=10.1002/ajmg.10893; 117A:172-176, 2003. [PubMed: 12567417]
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 2p+
    Index Terms: Triploid
  • Macgregor D J, Imrie S, Tolmie J L: Outcome of de novo balanced translocations ascertained prenatally. J. Med. Genet. 26:590-591, 1989. [PMC free article: PMC1015701] [PubMed: 2810345]
    Proband 2.
    Clinically normal at age 1.8 years.
    Aberration: Reciprocal translocation
    Positive band
  • Papagrigorakis M J, Synodinos P N, Daliouris C P, Metaxotou C.: De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia. Europ. J. Pediat. DOI=10.1007/s00431-003-1262-3, 2003. [PubMed: 12827510]
    46,XX,inv(2)(p12q34)de novo
    Patient was 18 years old with KFA and associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism.
    Aberration: Inversion pericentric
    MIM#: 148900
    Index Terms: Klippel-Feil anomaly (KFA),hypodontia
  • Stamberg J, Keiles S, 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. 265.
    Aberration: Reciprocal translocation
    Positive band
  • Stoll C: Cytogenetic findings in 122 couples with recurrent abortions. Hum. Genet. 57:101-103, 1981. [PubMed: 7262863]
    Case 1.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Turleau C, Chavin-Colin F, de Grouchy J: Cytogenetic investigation in 413 couples with spontaneous abortions. Europ. J. Obst. Gynecol. Reprod. Biol. 9:65-74, 1979. [PubMed: 264085]
    Laboratory register No. 8361.
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T.: Chromosome 2 aberrations in clinical cases characterised by high resolution multicolor banding and region specific probes. J. Med. Genet. 39:434-439, 2002. [PMC free article: PMC1735147] [PubMed: 12070255]
    Case 6=
    GTG=46,XX,dup(2)(p16.1p12).,MCB=46,XX,dup(2)(p16.3p12)de novo.
    The patient had cerebral dysmorphism, pulmonary stenosis, microphthalmia, microgenia, and cleft palate at birth.
    Aberration: Duplication
    Chromosomal Aneuploidy: 2p+
    Index Terms: Multicolor banding (MCB)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105428


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