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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 0Xp22.13 (Waters et al, 2001).
- 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. 15576 in this report.46,XY,t(2;6)(q14;p12).,46,XY,t(2;6)(2pter->2q14::6p12->6pter;6qter->6p12::2q14->2qter).Aberration: Reciprocal translocationPositive 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]Case, report No. 2, 20 years with psychomotor retardation.46,XX,t(2;10)(q14;q23).&"46,XY,der(2)der(10)t(2;10)(q14;q23)mat."Aberration: Simple translocationPositive band
- Same entry as in 01q320,02p120 (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(2;13)(q14;q34); t(2;15)(q14;q25).Aberration: Reciprocal translocationPositive band
- Castle D, Bernstein R: Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. AJMG 29:549-556, 1988. [PubMed: 3376998]46,XX,t(2;6)(q14;q27).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Positive band
- Couzin D A, Watt J L, Auchterlonie I A: A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation. J. Med. Genet. 20:389-392, 1983. [PMC free article: PMC1049158] [PubMed: 6644770]Patient was 6 years old; parental karyotypes were normal.46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13).&"46,XY,t(2;4;7)(7;8)(2pter -> 2q14::7q11 -> 7q22::8q13 -> 8qter;4pter -> 4q31::2q14 -> 2qter;7pter -> 7q11::4q31 -> 4qter;8pter -> 8q13::7q22 -> 7qter)."Aberration: Complex translocationPositive band
- Frydman M, Steinberger J, Shabtai F, Katznelson M B M, Varsano I: Interstitial deletion 2q14q21. AJMG 34:476-479, 1989. [PubMed: 2624255]Patient SK.46,XX,del(2)(q14q21).Anomalies present include enophthalmos, long philtrum, micrognathia, narrow forehead, prominent glabella, unilateral corneal clouding, with Peters-like anomaly, agenesis of the corpus callosum, and brain atrophy.Aberration: Interstitial deletionChromosomal Aneuploidy: 2q-Index Terms: Enophthalmus,Peters-like anomalyPositive band
- Lange R, Johannson G, Engel W: Chromosome studies in in-vitro fertilization patients. Hum. Reprod. 8:572-574, 1993. [PubMed: 8501188]46,XY,t(2;4)(q14;p15).The patient''s wife had two spontaneous miscarriages, and he had normal semen parameters.Aberration: Reciprocal translocationIndex Terms: IVF,SemenPositive band
- Lucas J, Faivre J, Le Mee F, Hubert S, Pluquailec K, Picard F: De novo interstitial deletion: 46,XX,del(2)(q14q21) and premature craniosynostosis. Ann. Genet. 30:33-38, 1987. [PubMed: 3498427]Patient Sophie B., 051184, with premature cranial synostosis and facial dysmorphism is reported.46,XX,del(2)(q14q21)de novo.Aberration: Interstitial deletionIndex Terms: Craniosynostosis,Facial dysmorphismPositive band
- Patil S R, Lubs H A, Brown J A, Cohen M M, Gerald P S, Hecht F, Kimberling W J, Myrianthopoulos N, Summitt R L: Incidence of major chromosome abnormalities in children. Cytogenetics 18:302-306, 1977. [PubMed: 880833]Case 5 in this report.46,XY,t(2;3)(2pter->2q14::3p2->3pter;3qter->3p2::2q14->2qter).,46,XY,der(2)der(3)t(2;3)(q14;p2)pat.,The band designation of chromosome 3 was given as p28 which obviously is an error since there is no such band in the Paris Conference nomenclature system (1975).Aberration: Reciprocal translocationPositive band
- Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]46,XX,t(2;13)(q14;q12).Aberration: Reciprocal translocationPositive 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 4, 85-108The fetal karyotype was carrier also.46,XX,t(2;5)(q14;q15).Aberration: Reciprocal translocationPositive band
- Stoll C, Kuss J J, Schneegans E: Inherited t2q-/15q+ translocation and Down''s syndrome. Clin. Genet. 9:5-7, 1976. [PubMed: 129308]46,XX,t(2;15)(q14;q25).&"46,XX,t(2;15)(2pter -> 2q14::15q25 -> 15qter;15pter -> 15q25::2q14 -> 2qter)."Case C. Sophie (090874) in this report.47,XX,+21,der(2)der(15)t(2;15)(q14;q25)mat.Aberration: Reciprocal translocationIndex Terms: Down syndrome (Trisomy 21)Positive 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,XY,t(2;10)(q142;q22).Aberration: Reciprocal translocationPositive band
- 02q140 - Chromosomal Variation in Man02q140 - Chromosomal Variation in Man
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