The Importance of Investigating for Uniparental Disomy in Prenatally Identified Balanced Acrocentric Rearrangements

Overview

Journal Prenat Diagn

Publisher Wiley

Specialty Gynecology & Obstetrics

Date 2002 Feb 22

PMID 11857621

Citations 7

Authors

Kathryn D McGowan

Joseph J Weiser

Juli Horwitz

Sue Ann Berend

Christopher McCaskill

V Reid Sutton

Lisa G Shaffer

Affiliations

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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.

Citing Articles

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

Sakaria R, Mostafavi R, Miller S, Ward J, Pivnick E, Talati A AJP Rep. 2021; 11(2):e65-e75.

PMID: 34055463 PMC: 8159623. DOI: 10.1055/s-0041-1727287.

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

Wang X, Pang H, Shah B, Gu H, Zhang L, Wang H Front Pediatr. 2020; 8:88.

PMID: 32211354 PMC: 7076151. DOI: 10.3389/fped.2020.00088.

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

Ogata T, Kagami M J Hum Genet. 2015; 61(2):87-94.

PMID: 26377239 PMC: 4771937. DOI: 10.1038/jhg.2015.113.

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

Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T Eur J Hum Genet. 2012; 20(9):928-32.

PMID: 22353941 PMC: 3421115. DOI: 10.1038/ejhg.2012.26.

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

Irving M, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A Am J Med Genet A. 2010; 152A(8):1942-50.

PMID: 20602488 PMC: 3819653. DOI: 10.1002/ajmg.a.33449.