Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy-Reference-Cited by-同舟云学术

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

Published:2019-03 Issue:3 Volume:62 Page:224-228
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

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

Funder

grants-in-aid for Scientific Research

Ministry of Education, Culture, Sports, Science and Technology of Japan

Ministry of Health, Welfare and Labor

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference11 articles.

1. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics;Afifi;Genet. Counsel.,2008

2. Skewed x-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies;Beever;Am. J. Hum. Genet.,2003

3. Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion;Bonaglia;Eur. J. Hum. Genet.,2009

4. X-chromosome inactivation patterns in females with Prader–Willi syndrome;Butler;Am. J. Med. Genet.,2007

5. Absence of heterozygosity due to template switching during replicative rearrangements;Carvalho;Am. J. Hum. Genet.,2015

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