Article
Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.
Cytogenetic and genome research - 1 Jan 2016
Demaerel Wolfram, Hosseinzadeh Majid, Nouri Nayereh, Sedghi Maryam, Dimitriadou Eftychia, Salehi Mansoor, Abdali Hossein, Memarzadeh Mehrdad, Zamani Mahdi, Vermeesch Joris R
Abstract excerpt
The 22q11.2 locus is known to harbor a high risk for structural variation caused by non-allelic homologous recombination, resulting in deletions and duplications. Here, we describe the first family with one sibling carrying the 22q11 deletion and the other carrying the reciprocal duplication. FISH and SNP array analysis of the parents show a maternal origin for both deletion and duplication, without indications...
Topics
- Adolescent
- Adult
- Child
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Female
- Gene Duplication
- Homologous Recombination
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Karyotype