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Article

Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations.

TSitologiia i genetika - 1 Jan 2000

Vorsanova S G, Iourov I Y, Demidova I A, Kolotii A D, Soloviev I V, Yurov Y B

Abstract excerpt

We report on two unrelated cases of pericentric inversion 46,XY,inv(7)(p11q21.1) associated with distinct pattern of malformation including mental retardation, development delay, ectrodactyly, facial dismorphism, high arched palate. Additionally, one case was found to be characterized by mesodermal dysplasia. Cytogenetic analysis of the families indicated that one case was a paternally inherited inversion whereas...

Topics

Adolescent
Child
Chromosome Inversion
Chromosome Mapping
Chromosomes, Human, Pair 7
Congenital Abnormalities
DNA
Genomic Imprinting
Genotype
Humans
In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Karyotyping

Male

Phenotype

Source

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PMID: 16933852

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