The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

doi:10.1136/jmg.34.10.857

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Article

The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

Journal of medical genetics - 1 Oct 1997

Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson S M

Abstract excerpt

We report a family in which the proband has a direct insertion of band 7q21.3 into chromosome 22 at 22q13.3, karyotype 46,XX,dir ins(22;7)(q13.3;q21.2q22.1). Two of her children have unbalanced chromosome rearrangements involving 7q21.3, with one girl monosomic for the region and a boy trisomic for the region. The child monosomic for band 7q21.3 has a split hand/split foot (SHSF) anomaly and her clinical features...

Topics

Adult
Child, Preschool
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 7
Female
Hand Deformities, Congenital
Humans
Infant
Male
Pedigree
Phenotype

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Identifiers

PMID: 9350823
DOI: 10.1136/jmg.34.10.857
PMCID: PMC1051097

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