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Article

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

European journal of medical genetics - 1 Mar 2019

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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