PMID: 6539659Jun 1, 1984Paper

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates

Clinical Genetics
S Stengel-RutkowskiJ Stene

Abstract

This is the case report of a patient with Wolf's syndrome having a monosomy 4pter----p15.3 and an additional trisomy 8pter----p22, derived from a maternal balanced translocation t(4;8)(p15.3;p22) after 2:2 disjunction and adjacent-1 segregation. The patient's phenotype is presumably slightly modified by the trisomic 8p segment. Literature analyses indicate that phenotypic "hybrids" with traits of monosomy 4p and of other autosomal segment trisomies exist. The dermatoglyphics of the patient were not highly characteristic for Wolf's syndrome. Also the dermatoglyphics of the balanced translocation carriers were unspecific and did not reflect the carrier status. Pedigree analyses of 46 reported families with reciprocal translocations involving the short arm of chromosome 4 show a high risk (20.5% +/- 4.6%) for unbalanced offspring (trisomy or monosomy 4p) after 2:2 disjunction and adjacent-1 segregation, if the breakpoint in the recipient chromosome is terminal and the resulting imbalance concerns the 4p segment only. It is considerably lower (4.5% +/- 2.5%) if the breakpoint in the recipient chromosome is subterminal, as in the reported case, and the resulting imbalance concerns other chromosome segments additionally to the 4p seg...Continue Reading

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Citations

Oct 1, 1988·Clinical Genetics·C Léonard, J L Huret
Jun 1, 1985·American Journal of Medical Genetics·M PreusM Vekemans
Aug 18, 2000·American Journal of Medical Genetics·J XuJ M Nowaczyk
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Nov 24, 1999·American Journal of Medical Genetics·A Battaglia, J C Carey
Apr 22, 2009·Developmental Medicine and Child Neurology·Agatino BattagliaJohn C Carey
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Agatino BattagliaJohn C Carey

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