The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.
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.
McGowan
Kathryn D
KD
Radiology Associates/Greystone, Providence, RI, USA.
Weiser
Joseph J
JJ
Horwitz
Juli
J
Berend
Sue Ann
SA
McCaskill
Christopher
C
Sutton
V Reid
VR
Shaffer
Lisa G
LG
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14; D004247:DNA / Q000032:analysis; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D018404:Isochromosomes; D006831:Polyhydramnios / Q000150:complications; D011247:Pregnancy; D012140:Respiratory Tract Diseases / Q000235:genetics; D014178:Translocation, Genetic; D024182:Uniparental Disomy / Q000235:genetics*; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins; D004247:DNA