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

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Kawai M,Tsutsumi M,Suzuki F,Sameshima K,Dowa Y,Kyoya T,Inagaki H,Kurahashi H

doi

10.1016/j.ejmg.2018.07.018

subject

Has Abstract

pub_date

2019-03-01 00:00:00

pages

224-228

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(18)30164-2

journal_volume

62

pub_type

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