An apparent balanced translocation [t(9;11)(p21.2;p14.2)] in a neonate with dysmorphic features.
The role of so called balanced translocations in human morphogenesis remains puzzling. An eleven month old hispanic female was referred for neurological evaluation. The major dysmorphic features include: epicanthal folds, flat nasal bridge, small mouth, micrognathia, low set ears and cleft-palate. The cytogenetic findings by multiple banding techniques revealed an apparent balanced translocation involving chromosomes 9p and 11p i.e. 46,XX,t(9;11)(p21.2;p14.2) which, according to the authors, has not been previously reported.
Conte
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Division of Genetics, Long Island College Hospital Suny Health Science Center, Brooklyn, NY 11201.
Sayegh
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Verma
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D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D014178:Translocation, Genetic / Q000235:genetics*