Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes | Zendy

Francesca Malvestiti | Zendy; Francesco Benedicenti | Zendy; Simona De Toffol | Zendy; Sara Chinetti | Zendy; Adelheid Höller | Zendy; Beatrice Grimi | Zendy; G. Fichtel | Zendy; Monica Braghetto | Zendy; Cristina Agrati | Zendy; Eleonora Bonaparte | Zendy; Federico Maggi | Zendy; Giuseppe Simoni | Zendy; Francesca Romana Grati | Zendy

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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Author(s) -

Francesca Malvestiti,

Francesco Benedicenti,

Simona De Toffol,

Sara Chinetti,

Adelheid Höller,

Beatrice Grimi,

G. Fichtel,

Monica Braghetto,

Cristina Agrati,

Eleonora Bonaparte,

Federico Maggi,

Giuseppe Simoni,

Francesca Romana Grati

Publication year - 2013

Publication title -

case reports in genetics

Language(s) - English

Resource type - Journals

eISSN - 2090-6544

pISSN - 2090-6552

DOI - 10.1155/2013/306098

Subject(s) - chromosomal inversion , karyotype , gene duplication , genetics , chromosome 4 , biology , recombinant dna , chromosome , meiosis , phenotype , gene

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

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