title: Prenatal diagnosis of der(11)t(11;18)(q24;q21.3) due to paternal balanced translocation and both parents are carriers of alpha-thalassemia-1--a case report.
abstract: A couple were identified as alpha-thalassemia-1 carriers (father: alpha-thal-1 of Filipino type, mother: alpha-thal-1 of SEA type). Amniocentesis was done at 19 weeks of gestation by a local obstetrician. Molecular study of amniotic fluid presented a non-thalassemia fetus, but the cytogenetic study revealed a karyotype of 46,XX,der(11)t(11;18)(q24;q21.3), resulting from a paternal balanced reciprocal translocation and unbalanced adjacent 1 segregation. The pregnancy was terminated at 23 weeks of gestation. The gross of fetus revealed bilateral cleft lip and palate, hypertelorism, flat nasal bridge, frontal bossing, micrognathia, low set ears, short neck with cystic hygroma, overlapping fingers, prominent heels, and limited hip abduction. The chromosome complement of the present case was partial monosomy for 11q24-qter and partial trisomy for 18q21.3-qter. This is the first prenatal diagnosis of unbalanced translocation with der(11)t(11;18)(q24;q21.3) pat due to paternal balanced translocation and both parents being carriers of alpha-thalassemia-1.
authors.affiliation: Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. d630005@kmu.edu.tw
authors.forename: M C
authors.initials: MC
authors.lastname: Chao
authors.forename: S Y
authors.initials: SY
authors.lastname: Yang
authors.forename: Y
authors.initials: Y
authors.lastname: Chang
authors.forename: Y W
authors.initials: YW
authors.lastname: Huang
authors.forename: T C
authors.initials: TC
authors.lastname: Liu
authors.forename: J P
authors.initials: JP
authors.lastname: Lee
authors.forename: B H
authors.initials: BH
authors.lastname: Chen
mesh_terms: D000328:Adult; D002880:Chromosomes, Human, Pair 11; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D009006:Monosomy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014314:Trisomy; D017085:alpha-Thalassemia / Q000235:genetics*