OBJECTIVE: a fetus with a ring chromosome 20 is presented. METHODS: at 16 weeks' gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. RESULTS: chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13.33 region. CONCLUSION: this is the first case of a ring chromosome 20 diagnosed prenatally. This reinforces the importance of offering amniocentesis with a-CGH to make more accurate prenatal diagnosis.
OBJECTIVE: a fetus with a ring chromosome 20 is presented. METHODS: at 16 weeks' gestation, ultrasound examination evidenced no apparent structural malformation. Amniocentesis was performed for maternal anxiety. RESULTS: chromosome analysis identified a ring chromosome 20 and array-CGH demonstrated that the ring including micro-deletion of the short arm in 20p13, that was extended for about 632.2 kb and a micro-deletion of the long arm in 20q13.33 region. CONCLUSION: this is the first case of a ring chromosome 20 diagnosed prenatally. This reinforces the importance of offering amniocentesis with a-CGH to make more accurate prenatal diagnosis.
Authors: Ying S Zou; Daniel L Van Dyke; Erik C Thorland; Harinderpal S Chhabra; Virginia V Michels; Jeannette G Keefe; Melanie A Lega; Molly A Feely; Timothy S Uphoff; Syed M Jalal Journal: Am J Med Genet A Date: 2006-08-01 Impact factor: 2.802
Authors: F Villéga; H Ngayap; C Espil-Taris; M Husson; C Rooryck-Thambo; B Arveiler; D Lacombe; J-M Pédespan Journal: Arch Pediatr Date: 2011-04 Impact factor: 1.180