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We report on the clinical and cytogenetic findings in a 9-year-old boy with a de novo deletion of 2q, shown by molecular analysis to have arisen from the paternal chromosome. Examination of microsatellite markers indicated deletion of bands 2q24.3 and 2q31. Clinical findings included craniosynostosis, bilateral ocular colobomata, and limb abnormalities, the latter being an emerging association with deletion of this region of 2q.

Type

Journal article

Journal

Am J Med Genet

Publication Date

13/06/1997

Volume

70

Pages

324 - 327

Keywords

Abnormalities, Multiple, Chromosome Deletion, Chromosomes, Human, Pair 2, Coloboma, Craniosynostoses, Humans, Infant, Newborn, Karyotyping, Limb Deformities, Congenital, Male