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Letter to the Editor Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bartâs hydrops fetalis To the Editor: Since the first cases of maternal uniparental disomy for chromosome 16 or UPD(16)mat was described by Kalousek et al. in 1993, a handful of cases have been diagnosed in newborn infants and terminated fetuses (1â4). Most cases are associated with confined placental mosaicism, with high incidence of adverse pregnancy outcome (4, 5). The most common findings include intrauterine growth retardation, single umbilical artery, imperforate anus, and pulmonary and cardiac malformations (1, 2, 4, 6, 7). Also, UPD(16)mat individual with normal phenotypes has been reported (8). The only confirmed case with UPD(16)pat was isodisomic and identified through pre-natal detection for abnormal maternal serum screening; eventually, the child was quite normal (9). Herein, we describe a hemoglobin (Hb) Bartâs hydroptic fetus and fetal malformations caused by UPD(16)mat. The counselee is a 34-year-old G1P0 pregnant Thai woman affected with Hb H disease caused by heterozygous Southeast Asian (âSEA) and the 3.7-kb deletions of the alpha1 and 2 globin genes, respectively. Her husband is Hb E heterozygote. Ultrasound performed at a gestation of 23 weeks showed a hydroptic fetus. Fetal blood from cordocentesis
Clinical Genetics – Wiley
Published: Sep 1, 2008
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