A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings

Am J Med Genet A. 2016 Jul;170(7):1930-3. doi: 10.1002/ajmg.a.37689. Epub 2016 May 9.

Authors

Mathew J Wallis^{1

2}, Amanda L Kelly¹, Gregory B Peters³, Luke St Heaps³, Adayapalam Nandini⁴, Julie M McGaughran^{1

2}

Affiliations

¹ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland.
² School of Medicine, The University of Queensland, Brisbane, Queensland.
³ Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, New South Wales.
⁴ Department of Cytogenetics, Royal Brisbane and Women's Hospital, Brisbane, Queensland.

PMID: 27159256
DOI: 10.1002/ajmg.a.37689

No abstract available

Keywords: Alagille syndrome; complex cytogenic rearrangement; interchromosomal reciprocal insertion.

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple / genetics*
Alagille Syndrome / genetics*
Child, Preschool
Chromosomes, Human, Pair 20*
Chromosomes, Human, Pair 5*
Fathers*
Female
Genomic Imprinting*
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Male
Mutagenesis, Insertional*
Siblings*