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Case Reports
. 1984 Apr;21(2):147-9.
doi: 10.1136/jmg.21.2.147.

A case of deletion 2q35----qter and a peculiar phenotype

J M Sánchez, A M Pantano
Case Reports

A case of deletion 2q35----qter and a peculiar phenotype

J M Sánchez et al. J Med Genet. 1984 Apr.

Abstract

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.

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References

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