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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Same entry as in 0X240 (Eshkevari, 1997).
- 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 translocationIndex Terms: ConvulsionNegative 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 translocationNegative band
- 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 translocationNegative 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 paracentricNegative 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 translocationNegative band
- 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 paracentricNegative band
- 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 translocationMIM#: 232200,252920Index Terms: Glycogen storage disease type 1a (GSD Ia),Sanfilippo syndrome type BNegative 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 paracentricIndex Terms: ICSI,Asthenozoospermia,Orchidectomy
- 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 paracentricIndex 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 translocationIndex Terms: Spontaneous abortionNegative band
- 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: DuplicationIndex Terms: OvergrowthNegative 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 translocationNegative 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 deletionChromosomal Aneuploidy: 12q-Negative band
- 12q150 - Chromosomal Variation in Man12q150 - Chromosomal Variation in Man
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