Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents

Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents Publisher Pubmed

Demaerel W¹ ; Hosseinzadeh M^{2, 3} ; Nouri N^{2, 4} ; Sedghi M⁴ ; Dimitriadou E¹ ; Salehi M² ; Abdali H^{4, 5} ; Memarzadeh M^{4, 5} ; Zamani M³ ; Vermeesch JR¹

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1. Laboratory for Cytogenetics and Genome Research, Center of Human Genetics, KU Leuven, Herestraat 49, Leuven, BE-3000, Belgium
2. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
3. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan, Iran
4. Craniofacial and Cleft Research Center, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
5. Department of Surgery, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Cytogenetic and Genome Research Published:2016

Abstract

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 of balanced deletions/duplications or mosaicism. We hypothesize that germline mosaicism in the mother underlies the deletion and duplication, which would implicate a high recurrence risk for her offspring. © 2016 S. Karger AG, Basel.

Style	Citing Format
MLA	Demaerel W, et al.. "Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents." Cytogenetic and Genome Research, vol. 148, no. 1, 2016, pp. 1-5.
APA	Demaerel W, Hosseinzadeh M, Nouri N, Sedghi M, Dimitriadou E, Salehi M, Abdali H, Memarzadeh M, Zamani M, Vermeesch JR (2016). Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents. Cytogenetic and Genome Research, 148(1), 1-5.
Chicago	Demaerel W, Hosseinzadeh M, Nouri N, Sedghi M, Dimitriadou E, Salehi M, Abdali H, Memarzadeh M, Zamani M, Vermeesch JR. "Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents." Cytogenetic and Genome Research 148, no. 1 (2016): 1-5.
Harvard	Demaerel W et al. (2016) 'Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents', Cytogenetic and Genome Research, 148(1), pp. 1-5.
Vancouver	Demaerel W, Hosseinzadeh M, Nouri N, Sedghi M, Dimitriadou E, Salehi M, et al.. Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents. Cytogenetic and Genome Research. 2016;148(1):1-5.
BibTex	@article{ author = {Demaerel W and Hosseinzadeh M and Nouri N and Sedghi M and Dimitriadou E and Salehi M and Abdali H and Memarzadeh M and Zamani M and Vermeesch JR}, title = {Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents}, journal = {Cytogenetic and Genome Research}, volume = {148}, number = {1}, pages = {1-5}, year = {2016} }
RIS	TY - JOUR AU - Demaerel W AU - Hosseinzadeh M AU - Nouri N AU - Sedghi M AU - Dimitriadou E AU - Salehi M AU - Abdali H AU - Memarzadeh M AU - Zamani M AU - Vermeesch JR TI - Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents JO - Cytogenetic and Genome Research VL - 148 IS - 1 SP - 1 EP - 5 PY - 2016 ER -

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