Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities

American Journal of Medical Genetics

Volumn 135 A, Issue 3, 2005, Pages 317-319

  Tihy, Frédérique ^a   Lemieux, N ^a   Lemyre, E ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

Complex chromosomal rearrangement; Dysmorphism; Hydronephrosis; Mild mental retardation; Recombinant

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 16; CHROMOSOME 20; CHROMOSOME 5; CHROMOSOME BAND; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; COMPLEX CHROMOSOME REARRANGEMENT; FACE DYSMORPHIA; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYDRONEPHROSIS; KARYOTYPING; MATERNAL AGE; MEIOSIS; MENTAL DEFICIENCY; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE;

ADULT; AMNIOCENTESIS; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOME PAINTING; FEMALE; HUMANS; INFANT; KARYOTYPING; MATERNAL AGE; MODELS, GENETIC; MOTHERS; NUCLEAR FAMILY; PHENOTYPE; PREGNANCY; TRANSLOCATION, GENETIC;

EID: 19944370510     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30697     Document Type: Article

References (9)

1. Andersen O, Lundsteen C, Niebuhr E. 1981. A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4. Cytogenet Cell Genet 30:3-10.
2. Madan K, Nieuwint AWM, van Bever Y. 1997. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocation. Hum Genet 99:806-815.
3. Masuno M, Asano J-I, Yasuda K, Kondo T, Orii T. 1993. Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother, derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies. Am J Med Genet 45:65-67.
4. Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzed A. 1999. Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet 7:873-883.
5. Tabor A, Jensen LK, Lundsteen C, Niebuhr E. 1981. A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. J Med Genet 18:307-309.
6. Tuck Muller CM, Varela M, Pridjian G, Chen H, Wertelecki W. 1996. A complex, five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring. Am J Med Genet 63:392-395.
7. Walker S, Howard PJ, Hunter D. 1985. Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination. J Med Genet 22:484-491.
8. Warburton D. 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
9. Zahed L, Der Kaloustian V, Batanian JR. 1998. Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products. Am J Med Genet 79:30-34.