Literature DB >> 11857621

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.

Kathryn D McGowan1, Joseph J Weiser, Juli Horwitz, Sue Ann Berend, Christopher McCaskill, V Reid Sutton, Lisa G Shaffer.   

Abstract

We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes. Copyright 2002 John Wiley & Sons, Ltd.

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Year:  2002        PMID： 11857621

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  7 in total

1.  Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.

Authors:  Sami Tsukishiro; Qing Ying Li; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2005-03-04       Impact factor: 3.172

2.  Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32.

Authors:  Alberto L Rosa; Yuan-Qing Wu; Bernard Kwabi-Addo; Karen J Coveler; V Reid Sutton; Lisa G Shaffer
Journal:  Chromosome Res       Date:  2005-12-08       Impact factor: 5.239

3.  Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.

Authors:  Melita D Irving; Karin Buiting; Deniz Kanber; Celia Donaghue; Reiner Schulz; Amaka Offiah; Shehla N Mohammed; Rebecca J Oakey
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

4.  Kagami-Ogata Syndrome: Case Series and Review of Literature.

Authors:  Rishika P Sakaria; Roya Mostafavi; Stephen Miller; Jewell C Ward; Eniko K Pivnick; Ajay J Talati
Journal:  AJP Rep       Date:  2021-05-27

5.  Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.

Authors:  Masayo Kagami; Fumiko Kato; Keiko Matsubara; Tomoko Sato; Gen Nishimura; Tsutomu Ogata
Journal:  Eur J Hum Genet       Date:  2012-02-22       Impact factor: 4.246

Review 6.  Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.

Authors:  Tsutomu Ogata; Masayo Kagami
Journal:  J Hum Genet       Date:  2015-09-17       Impact factor: 3.172

7.  A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation.

Authors:  Xiaoxue Wang; Hui Pang; Birju A Shah; Hongcang Gu; Lijun Zhang; Hua Wang
Journal:  Front Pediatr       Date:  2020-03-10       Impact factor: 3.418
  7 in total

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