Mosaic "tetrasomy" 8p: case report and review of the literature

Clinical Genetics
J WintersC Jackson-Cook

Abstract

A male infant presenting with multiple anomalies including a midline cleft palate, anasarca, hepatomegaly, pulmonary edema, agenesis of the corpus collosum, and complex congential cardiac anomalies was found to have mosaicism for an additional chromosome that appeared (following GTG-banding and FISH) to be a monocentric isochromosome of the short arm of chromosome 8 (46,XY/47,XY, +i(8p)). Nine other cases of mosaicism for an additional i(8p) were reviewed. Considerable phenotypic variation was noted. Consistent features were identified including agenesis of the corpus callosum, cardiac malformations, and minor facial dysmorphology. The phenotype of these patients partially overlaps those of trisomy 8 and trisomy 8p. By studying additional individuals with this condition, mosaic tetrasomy 8p may emerge as a recognizable clinical phenotype.

References

Mar 1, 1989·American Journal of Medical Genetics·M RobinowJ W Landers
May 1, 1994·American Journal of Medical Genetics·C T Schrander-StumpelJ P Fryns
Jun 15, 1993·American Journal of Medical Genetics·D NewtonT Kushnick
Jun 15, 1993·American Journal of Medical Genetics·D J TilstraR A Pagon
Jun 1, 1989·Journal of Family Issues·D J Eggebeen, P Uhlenberg

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Citations

Nov 1, 2006·Prenatal Diagnosis·Christelle GolzioHeather C Etchevers
Sep 21, 2004·American Journal of Medical Genetics. Part a·Eliana DemoriVanna Pecile
Jan 31, 2014·Brain : a Journal of Neurology·Timothy J EdwardsLinda J Richards
Jun 10, 2003·American Journal of Medical Genetics. Part a·Marie-Josée Le BrisMarc De Braekeleer
Jul 29, 2010·Clinical Dysmorphology·Brian T WilsonRichard B Fisher
Jan 24, 1998·American Journal of Medical Genetics·R M NapoleoneH C Andersson

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