title: Prenatal diagnosis of a de novo ring chromosome 11.
abstract: Ring chromosomes are uncommon findings in prenatal diagnosis. Growth retardation is the most significant manifestation, in particular among patients with rings of larger chromosomes. A 30-year-old gravida 1, para 0 white woman was referred for genetic counseling because of maternal anxiety. Cytogenetic analysis of amniotic fluid cells at 16 weeks gestation revealed an abnormal mosaic female chromosome complement; 46,XX,r(11)(p15q25)[14]/45,XX,-11[7]. The ring 11 showed no detectable loss of chromosomal material at 450 band level. Both parents had a normal karyotype. Fluorescence in situ hybridization demonstrated intact subtelomeric regions in the ring chromosome. A targeted ultrasound evaluation at the time of consultation suggested no significant abnormalities. The parents were counseled and subsequently decided to terminate the pregnancy. The autopsy revealed an immature female fetus with abnormal craniofacial features including brachycephaly, low-set ears and hypertelorism, bicornuate uterus, and calcifications in the renal tubules. The abnormal phenotypes could be a consequence of the ring instability, submicroscopic deletion, and/or alteration of genetic material at the site of fusion.
authors.affiliation: Department of Pathology/Cytogenetics Laboratory, Wayne State University, 4727 St. Antoine Blvd., Detroit, MI 48301, USA. anwar_mohamed@hotmail.com
authors.forename: A N
authors.initials: AN
authors.lastname: Mohamed
authors.forename: S A
authors.initials: SA
authors.lastname: Ebrahim
authors.forename: R
authors.initials: R
authors.lastname: Aatre
authors.forename: F
authors.initials: F
authors.lastname: Qureshi
authors.forename: S M
authors.initials: SM
authors.lastname: Jacques
authors.forename: M I
authors.initials: MI
authors.lastname: Evans
mesh_terms: D000328:Adult; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012303:Ring Chromosomes