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Mosaic “tetrasomy” 8p: case report and review of the literature
Author(s) -
Winters Jennifer,
Markello Thomas,
Nance Walter,
JacksonCook Colleen
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04088.x
Subject(s) - tetrasomy , biology , isochromosome , agenesis of the corpus callosum , genetics , corpus callosum , trisomy , agenesis , phenotype , polyhydramnios , anatomy , chromosome , pathology , karyotype , fetus , medicine , pregnancy , gene
A male infant presenting with multiple anomalies including a midline cleft palate, anasarca, hepatomegaly, pulmonary edema, agenesis of the corpus callosum, and complex congenital 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.