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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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12q150

12q15
  • Same entry as in 02q372 (Astbury et al, 2004).

  • Same entry as in 04p140 (Smigiel et al, 2007).

  • Same entry as in 04q250 (Flomen et al, 1997).

  • Same entry as in 0X240 (Eshkevari, 1997).

  • Same entry as in 0Xq110 (Bienvenu et al, 1997).

  • Same entry as in 12q130 (Perez et al, 2004).

  • Same entry as in 04q250 (Al-Kouatly et al, 2002).

  • Same entry as in 0Xq130 (Waters et al, 2001).

  • Biederman B, Bowen P: Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect. Ann. Genet. 19:257-260, 1976. [PubMed: 1087856]
    Case W.L. (291266) in this report.
    46,XX,t(12;18)(q15;q23).&Four patients, including this case, with break point in 12q15 and positioning of segments were found to have phenotypic abnormalities. Fourteen individuals with break points at other sites on chromosome 12 did not have phenotypic abnormalities. The ten-year-old patient had mental retardation, a convulsive disorder and clinical findings resembling cerebral palsy.
    Aberration: Simple translocation
    Index Terms: Convulsion
    Negative band
  • Same entry as in 03p230,07q113 (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)(q15;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 03q132 (Casamassima A C et al, 1993).

  • Coco R, Penchaszadeh V B: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. AJMG 12:155-173, 1982. [PubMed: 7102722]
    Gallego M, Coco R: De novo balanced translocation in a malformed and mentally retarded boy. Medicina(Argentina) 41:6-10, 1981.
    Patient (Case 185) was 12 years old.
    46,XY,t(12;17)(q15;q25).&"46,XY,t(12;17)(12pter -> 12q15::17q25 -> 17qter;17pter -> 17q25::12q15 -> 12qter)."
    Aberration: Reciprocal translocation
    Negative band
  • 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. 1770.
    46,XX,inv(12)(q15q24)pat.
    Aberration: Inversion paracentric
    Negative band
  • Hustinx T W J, Gabreels F J M, Rutten F J, Korten J J, Scheres J M J C, Joosten E M G, Gijsbers T H J: A mentally retarded child with a translocation involving chromosomes 12 and 19. J. Med. Genet. 12:207-210, 1975. [PMC free article: PMC1013267] [PubMed: 1142383]
    46,XX,rcp(12;19)(q15;q13).&"46,XX,rcp(12;19)(12pter -> 12q15::19q13 -> 19qter;19pter -> 19q13::12q15 -> 12qter)."
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 10p130 (Junge et al, 1991).

  • Same entry as in 12p120 (Kleczkowska et al, 1987).

  • Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]
    Case 13.
    46,XY,inv(12)(q15q24).
    Aberration: Inversion paracentric
    Negative band
  • Same entry as in 08p230 (Masuno et al, 1993).

  • McIntire S C, Bansal V, Wenger S L, Barranger J A, Thompson J N, Higgins J, Hug G, Balistreri W F: "Glycogen storage disease and Sanfilippo syndrome type B in a patient with 12;20 translocation." AJHG 53:Abst. 927, 1993.
    Wenger S L, McIntire S C, Bansal V, Barranger J A, Higgins J, Balistreri W F, Thompson J N, Deka R.: Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation. Clin. Genet. 58:409-410, 2000. [PubMed: 11140844]
    Mother:mos45,X/47,XXX.
    46,XX,t(12;20)(q15;q13.1)de novo.
    The 10 month old patient was studied extensively.
    Aberration: Simple translocation
    Index Terms: Glycogen storage disease type 1a (GSD Ia),Sanfilippo syndrome type B
    Negative band
  • Meschede D, Lemcke B, Exeler J R, De Geyter Ch, Behre H M, Nieschlag E, Horst J.: Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection- prevalence, types, sex distribution and reproductive relevance. Hum. Reprod. 13:576-582, 1998. [PubMed: 9572415]
    Case No. 2:
    46,XY,inv(12)(q15q24.1)
    The 34 yo man had asthenozoospermia, unilateral orchidectomy and ICSI was indicated because of male and female infertility.
    Aberration: Inversion paracentric
    Index Terms: ICSI,Asthenozoospermia,Orchidectomy
  • Same entry as in 10p120 (Portnoi M F et al, 1988).

  • Same entry as in 0Xp220 (Quack et al, 1988).

  • Same entry as in 09p210 (Schinzel et al, 1992).

  • Singh R P: Klinefelter''s syndrome with a 47,XXY,inv(12)(q15q24) karyotype. Clin. Genet. 19:188-190, 1981. [PubMed: 7273462]
    Patient was 22 years old, with small testes, and azoospermia.
    Aberration: Inversion paracentric
    Index Terms: Azoospermia,Klinefelter syndrome,Testes ... hypoplasia (tic) (small)
    Negative band
  • Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Case 10, SC.
    46,XX,t(12;13)(q15;q32).
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band
  • Same entry as in 02q333 (Tamaki K et al, 1989).

  • Same entry as in 02p150 (Terrett et al, 1996).

  • Wajntal A, Moretti-Ferriera D, de Souza D H, Koiffmann C P: Cytogenetic evidence of involvment of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth. DNA and Cell Biol. 12:227-231, 1993. [PubMed: 8466645]
    Patient 2, JAA, 261188.
    mos46,XX/46,XX,12p+,dup(12)(q11 -> q15)(21%).
    Aberration: Duplication
    Index Terms: Overgrowth
    Negative band
  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XX,t(12;19)(q15;q12).
    Aberration: Reciprocal translocation
    Negative band
  • Watson M S, McAllister-Barton L, Mahoney M J, Breg W R: Deletion (12)(q15q21.2). J. Med. Genet. 26:343-344, 1989. [PMC free article: PMC1015605] [PubMed: 2543819]
    46,XX,del(12)(12pter -> 12q15::12q21.2 -> qter).
    The patient was 3 months old with few congenital anomalies.
    Parental karyotypes were normal.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 12q-
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107129
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