A case of deletion 2q35----qter and a peculiar phenotype.
A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype