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- Title
Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.
- Authors
Vermeulen, Stefan J.; Speleman, Frank; Vanransbeeck, Leen; Verspeet, Jasmien; Menten, Björn; Verschraegen-Spae, Marie-Rose; de Wilde, Philippe; Messiaen, Ludwine; Michaelis, Ron C.; Leroy, Jules G.
- Abstract
We describe a family in which the largest hitherto reported pericentric inversion of chromosome 18, inv(18)(p11.22q23), segregates. Individuals heterozygous for the nonrecombinant inversion were unaffected. However, those heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant exhibited mild learning difficulty, personality disorders and deficient social behavior in the absence of mental retardation. Of the three family members tested, the behavioral abnormalities were more prominent in the two individuals with the dup(18p)/del(18q) recombinant than in the one with the dup(18q)/del(18p) recombinant. Genetic counseling issues for this family, in particular for the affected, include the enhanced probability of reduced fertility as well as the recurrence risk of the parental inversion equaling 1/2 in surviving offspring. This observation kindles the interest in determining the frequency of subtelomeric rearrangements in individuals with learning difficulty and deficiency in social interaction, phenotypic features often considered to be of multifactorial causation.European Journal of Human Genetics (2005) 13, 52-58. doi:10.1038/sj.ejhg.5201281 Published online 6 October 2004
- Subjects
CHROMOSOMES; HUMAN behavior; SOCIAL interaction; LEARNING disabilities; GENETIC counseling; HUMAN genetics
- Publication
European Journal of Human Genetics, 2005, Vol 13, Issue 1, p52
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201281