Inv dup(15): contribution to the clinical definition of phenotype.

doi:10.1111/j.1399-0004.1994.tb04232.x

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Article

Inv dup(15): contribution to the clinical definition of phenotype.

Clinical genetics - 1 Sept 1994

Grammatico P, Di Rosa C, Roccella M, Falcolini M, Pelliccia A, Roccella F, Del Porto G

Abstract excerpt

One of the primary goals in medical genetics is a precise clinical definition of chromosomal diseases. This is now possible because of the increased number of case reports and new techniques. A male patient, without a clear-cut syndrome, was cytogenetically investigated. Chromosomal analysis show...

Topics

Adolescent
Chromosome Inversion
Chromosomes, Human, Pair 15
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Multigene Family
Phenotype

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