BACKGROUND: Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS: Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirmed that the deletion included the 5q15-21.3 region and was 14 Mb in size. Therefore, the karyotype was: 46,XY,del(5)(q15q21.3). In addition, analysis of polymorphic DNA markers showed that the deletion was of paternal origin. CONCLUSIONS: The pregnancy was terminated at 34 weeks' gestation. At autopsy, the fetus displayed dysmorphic features, thin limbs and renal abnormalities. The clinical findings observed in the fetus as well as in 20 cases reported previously allowed us to further delineate the phenotype of such interstitial 5q15q21.3 deletions. 2006 John Wiley & Sons, Ltd.
BACKGROUND: Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed. METHODS AND RESULTS: Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirmed that the deletion included the 5q15-21.3 region and was 14 Mb in size. Therefore, the karyotype was: 46,XY,del(5)(q15q21.3). In addition, analysis of polymorphic DNA markers showed that the deletion was of paternal origin. CONCLUSIONS: The pregnancy was terminated at 34 weeks' gestation. At autopsy, the fetus displayed dysmorphic features, thin limbs and renal abnormalities. The clinical findings observed in the fetus as well as in 20 cases reported previously allowed us to further delineate the phenotype of such interstitial 5q15q21.3 deletions. 2006 John Wiley & Sons, Ltd.
Authors: N Le Meur; M Holder-Espinasse; S Jaillard; A Goldenberg; S Joriot; P Amati-Bonneau; A Guichet; M Barth; A Charollais; H Journel; S Auvin; C Boucher; J-P Kerckaert; V David; S Manouvrier-Hanu; P Saugier-Veber; T Frébourg; C Dubourg; J Andrieux; D Bonneau Journal: J Med Genet Date: 2009-07-09 Impact factor: 6.318
Authors: Cheen Euong Ang; Qing Ma; Orly L Wapinski; Anand Srivastava; Marius Wernig; Howard Y Chang; ShengHua Fan; Ryan A Flynn; Qian Yi Lee; Bradley Coe; Masahiro Onoguchi; Victor Hipolito Olmos; Brian T Do; Lynn Dukes-Rimsky; Jin Xu; Koji Tanabe; LiangJiang Wang; Ulrich Elling; Josef M Penninger; Yang Zhao; Kun Qu; Evan E Eichler Journal: Elife Date: 2019-01-10 Impact factor: 8.140