Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis.

doi:10.1002/ajmg.1320450524

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Article

Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis.

American journal of medical genetics - 1 Mar 1993

Fryburg J S, Golden W L

Abstract excerpt

We report on a 3-year-old girl who has an interstitial deletion of chromosome 8q [46,XX,del(8)(q13.3q22.1)]. She has severe mental retardation and minor anomalies in addition to lambdoidal synostosis. This is the first report of craniosynostosis in association with this chromosomal deletion. The...

Topics

Abnormalities, Multiple
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 8
Craniosynostoses
Developmental Disabilities
Female
Humans
Intellectual Disability
Phenotype

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