Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2;q11.23)

Cytogenetics and Cell Genetics

Volumn 93, Issue 3-4, 2001, Pages 168-170

  Dufke, Andreas ^a,b   Mayrhofer, H ^b   Enders, H ^a   Kaiser, P ^a   Leipoldt, M ^a,c  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CHROMOSOME TRANSLOCATION 17; CHROMOSOME TRANSLOCATION 22; CONFERENCE PAPER; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MEIOSIS; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SKIN FIBROBLAST; UNIPARENTAL DISOMY;

EID: 0034859603     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000056979     Document Type: Conference Paper

References (15)

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3. On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations: A critical review of the Leuven data 1966-1991
4. Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction
5. A systematic search for uniparental disomy in carriers of chromosome translocations
6. Unusual segregation of constitutional 11q;22q translocation may be explained by crossover in interchange segment, followed by 3:1 segregation at meiosis I
7. Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segregation in first meiosis
8. 11q;22q translocation: Third case of imbalance not due to 3:1 nondisjunction in first meiosis
9. Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I
10. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases
11. The unbalanced offspring of the male carriers of the 11q;22q translocation: Nondisjunction at meiosis II in a balanced spermatocyte
12. Dinucleotide repeat polymorphism at the topoisomerase (DNA) I pseudogene 2 (TOPIP2)
13. The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age
14. A familial 'balanced' 3;9 translocation with cryptic insertion 8q leading to deletion and duplication of 9p23 loci in siblings