- 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(1;16)(p1;p3).Aberration: Reciprocal translocationNo band
- Lanphear N, Lamb A, Oppenheimer S, Soukup S.: Supernumerary chromosome marker (1) in a developmentally delayed child. AJMG 57:400-402, 1995. [PubMed: 7545867]mos46,XY/47,XY,+r(1)de novo.The patient was 15 months old with mild developmental delay and several minor anomalies.Aberration: Ring chromosomeNo band
- Leegte B, Sikkema-Raddatz B, Hordijk R, Bouman K, van Essen T, Castedo S, de Jong B.: Three cases of mosaicism for balanced reciprocal translocations. AJMG 79:362-365, 1998. [PubMed: 9779802]Case 2:CVS=46,XX[15] initial examination.,After 33 weeks: 80 cells were examined: ,mos46,XY,t(1;5)(p10;q10),inv(11)(q21q23)[11]/46,XY,der(1)t(1;5),(p10;q10)t(1;7)(p32.3;q34),der(5)t(1;5),der(7)t(1;7),,inv(11)(q21q23)[3]/46,XY[66].,Blood after birth: 46,XY,t(1;5)(p10;q10),inv(11)(q21q23)[29]. Father=mos46,XY,inv(11)(q21q23)[12]/46,XY,t(1;5)(p10;q10),,inv(11)(q21q23)[2].No congenital anomalies were detected after birth. The sex discrepancy was detected at 33 weeks on ultrasound and further studies were done with the above results.Aberration: Reciprocal translocation
- Lucas J N, Hill F S, Chen A M, Burk C E.: A rapid method for measuring pericentric inversions using fluorescence in situ hybridization (FISH). Int. J. Radiat. Biol. 71:29-33, 1997. [PubMed: 9020960]inv(1)(p1q1)A pericentric inversion is made observable by the change in position (switching) of the FISH signals realtive to the centromere ie green-red-green (normal) and green-green-red (inverted).Aberration: Inversion pericentricIndex Terms: FISHNo band
- Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]2,280 patients undergoing ICSI were studied.46,XX,t(1;8)(p10;q10)Aberration: Whole-arm translocationsIndex Terms: ICSI
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 01p100.