UNASSIGNED: We here report an unusual case of Hb Bart's (y4) disease. @entity2395 screening of a couple showed that the wife was an a(0)- @entity2395 (a(0)-thal) carrier and her husband's mean corpuscular volume (MCV) was normal. @entity18565 sampling (CVS) was performed at 13 weeks' gestation for positive Down syndrome screening and chromosomal study of the cultured CVS showed a normal karyotype. Ultrasound examination at 22 weeks' gestation showed fetal @entity1283 and raised middle cerebral artery peak systolic velocity. Cordocentesis confirmed @entity417 and showed Hb @entity195 . Multiplex gap-polymerase chain reaction (gap-PCR) for a-thal deletions on DNA extracted from the CVS showed the presence of a homozygous a(0)-thal - -(SEA) (Southeast Asian) deletion. The husband was found to be a carrier of the a(+)-thal -a(3.7) (rightward) deletion. Non paternity was excluded by fluorescent PCR using short tandem repeat (STR) markers on chromosomes 13, 18 and 21. A de novo terminal deletion of chromosome 16 was excluded by array comparative genomic hybridization (aCGH). Detection of @entity8882 ( @entity8882 ), using STR markers on chromosome 16 showed maternal uniparental isodisomy from 16pter to 16p13.2, and @entity8882 from 16p13.13 to 16qter.

A Fetus with Hb XXXX Due to Maternal Uniparental Disomy for Chromosome 16.

@entity417 :: ('MESH:D000740', 'Disease') :: ['fetal anemia'] @entity1283 :: ('MESH:D006332', 'Disease') :: ['cardiomegaly'] @entity18565 :: ('MESH:C564876', 'Disease') :: ['Chorionic villus'] @entity195 :: ('MESH:D000544', 'Disease') :: ["Bart's disease"] @entity8882 :: ('MESH:D024182', 'Disease') :: ['UPD', 'uniparental heterodisomy', 'uniparental disomy'] @entity2395 :: ('MESH:D013789', 'Disease') :: ['thalassemia', 'Thalassemia']
@entity195 :: (MESH:D000544,Disease) :: ['Bart's Disease']
