- Atkins L, Milunsky A, Shahood J M: Prenatal Diagnosis: Detailed chromosome analysis in 500 cases. Clin. Genet. 6:317-322, 1974. [PubMed: 4216438]46,XX,t(2p-;4q+).&This balanced translocation was found in the amniotic fluid material.Aberration: Simple translocationNo band
- de Grouchy J, Aussannaire M, Brissaud P E, Lamy M: Aneusomie de Recombinaison: Three further examples. AJHG 18:467-484, 1966. [PMC free article: PMC1706182] [PubMed: 5927289]Case 2 in this report.46,XX,t(2;B)(p;p1).&"46,XX and XY,der(2),der(B),t(2;B)(p;p1)mat."Case 3 in this report.46,XX,inv(2)(pq).Aberration: ST,PINo band
- Handmaker S D, Hall B D, Conte F A: A new recognizable syndrome associated with a chromosomal abnormality. BD-OAS XI(No. 5):181-189, 1975. [PubMed: 1218211]Case 1 (M.D.) in this report.46,XY,der(2p-),der(4p-),der(7p+),der(8q+)mat.Case 2 (S.D.) in this report.46,XY,-8,+der(8q+)mat.Case 3 (E.D.) in this report.46,XX,2p-,4p-,7p+,8q+.Aberration: Complex translocationNo band
- Lev D, Malinger G, Chaki R, Reichler A, Glazerman M.: Two de-novo balanced autosomal translocations after intracytoplasmic sperm injection. Lancet 353:119, 1999. [PubMed: 10023902]45,XX,t(2p;6q)de novo,rob(14q21q)de novo.Case ascertained prenatally after genetic counseling. Mother was 32 years old, had an ICSI pregnancy, and had amniocentesis at 17 weeks. Pregnancy terminated at 26 weeks. No malformations were seen and karyotype was confirmed in blood cultures.Aberration: DA,STIndex Terms: ICSI
- Michels V V, Medrano C, Venne V L, Riccardi V M: Chromosome translocations in couples with multiple spontaneous abortions. AJHG 34:507-513, 1982. [PMC free article: PMC1685330] [PubMed: 7081226]46,XX,inv(2).Aberration: Inversion pericentricIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)No band
- Shokeir M H K, Ying K L, Pabello P D: Deletion of the long arm of chromosome No. 7: Tentative assignment of the Kidd (Jk) locus. Clin. Genet. 4:360-368, 1973. [PubMed: 4518278]46,XX,t(2;7)(p;pq).&The interpretation for the karyotypic abnormality is quite complex. It is believed that there is partial monosomy for the long arm of 7.No band
- Singh R P, Jaco N T, Vigna V: Pierre Robin syndrome in siblings. AJDC 120:560-561, 1970. [PubMed: 5481910]46,XY,inv(2)(pq).&46,XY,der(2)inv(2)(pq)pat.Aberration: Inversion pericentricMIM#: 261800Index Terms: Pierre Robin syndromeNo 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]Data from McMaster U. Med. C., Hamilton, Ont. Canada.46,XX,t(2p;10q).Delayed development at 21 months.Aberration: Reciprocal translocationNo band
Publication Details
Copyright
Copyright © 2011-2013, Digamber
Borgaonkar.
Publisher
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-. 02p000.