Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy

Miki Kawai; Makiko Tsutsumi; Fumihiko Suzuki; Kiyoko Sameshima; Yuri Dowa; Takuji Kyoya; Hidehito Inagaki; Hiroki Kurahashi

doi:10.1016/j.ejmg.2018.07.018

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy

Eur J Med Genet. 2019 Mar;62(3):224-228. doi: 10.1016/j.ejmg.2018.07.018. Epub 2018 Jul 18.

Authors

Miki Kawai¹, Makiko Tsutsumi¹, Fumihiko Suzuki², Kiyoko Sameshima³, Yuri Dowa⁴, Takuji Kyoya⁵, Hidehito Inagaki⁶, Hiroki Kurahashi⁷

Affiliations

¹ Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
² Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan; Center for Collaboration in Research and Education, Fujita Health University, Toyoake, Japan.
³ Department of Pediatrics, Minamikyushu National Hospital, Aira, Japan.
⁴ Department of Neurology, Gunma Children's Medical Center, Shibukawa, Japan.
⁵ Department of Obstetrics, Gunma Children's Medical Center, Shibukawa, Japan.
⁶ Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.
⁷ Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan; Center for Collaboration in Research and Education, Fujita Health University, Toyoake, Japan; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan. Electronic address: [email protected].

PMID: 30031150
DOI: 10.1016/j.ejmg.2018.07.018

Abstract

Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy encompassing the deleted region found in the two siblings. The pattern of X chromosome inactivation was almost completely skewed in the mother. These data suggested that the mother was a carrier of the 11q23.3-qter deletion but that this had been rescued by disomy formation during early embryogenesis except for her germinal cells.

Keywords: 11q23-qter deletion; Deletion rescue; Germline mosaicism; Jacobsen syndrome; Skewed X chromosome inactivation; Uniparental disomy.

Publication types

Case Reports

MeSH terms

Child, Preschool
Humans
Jacobsen Distal 11q Deletion Syndrome / genetics*
Jacobsen Distal 11q Deletion Syndrome / pathology
Karyotype
Male
Pedigree
Phenotype*
Siblings
Uniparental Disomy / genetics*
Uniparental Disomy / pathology
X Chromosome Inactivation