title: [PRENATAL DIAGNOSIS OF FOETAL TRISOMY 3Q WITH PATERNAL ORIGIN].
abstract: Balanced chromosomal translocations do not generally have phenotypic manifestation, but lead to increased risk of miscarriage and live-birth of chromosomally unbalanced offspring in carriers. Frequently prenatal diagnosis of an unbalanced translocation may incidentally detect a balanced translocation in the family. Here, we report a unique case of trisomy 3q (karyotype 46,XYder(3)t(3;21)(q11;p11)), detected prenatally due to abnormal findings of the fetus ascertained through ultrasound assessment like growth retardation, vermal agenesis, micrognathia, cystic hygroma of the neck, dextra position of arcus aortae, shorter for the gestational week long bones In order to determine the paternity of this chromosomal aberration, the cytogenetic analyses of the parents was performed. A balanced paternal translocation 46,XY,t(3;21)(q11;p11) wase identified. During the next pregnancy the same balanced translocation of paternal origin wase also identified. This case demonstrate the significance of prenatal ultrasound screening of the fetus; the necessity of cytogenetic analysis of a fetus with prenatal ultrasound abnormalities; genetic counseling of such families with aim of prenatal care and prevention during next pregnancies.
authors.forename: V
authors.initials: V
authors.lastname: Stoyanova
authors.forename: N
authors.initials: N
authors.lastname: Nedeva
authors.forename: A
authors.initials: A
authors.lastname: Linev
authors.forename: H
authors.initials: H
authors.lastname: Ivanov
authors.forename: P
authors.initials: P
authors.lastname: Petrova
authors.forename: K
authors.initials: K
authors.lastname: Krushkov
authors.forename: V
authors.initials: V
authors.lastname: Stratieva
authors.forename: T
authors.initials: T
authors.lastname: Vachev
mesh_terms: D000328:Adult; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000378:metabolism; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D016216:Ultrasonography, Prenatal