Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history

Ultrasound in Obstetrics and Gynecology

Volumn 7, Issue 3, 1996, Pages 208-210

  Paladini, D ^a,b   Palmieri, S ^a   Lecora, M ^a   Perone, L ^a   Di Meglio, A ^a   D'Armiento, M ^a   Cascioli, C ^a   Martinelli, P ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b NONE   (Italy)

Author keywords

Chromosome; Face; Heart disease; Prenatal diagnosis; Roberts syndrome; Skeleton; Ultrasound

Indexed keywords

ADULT; AORTA; ARTICLE; CASE REPORT; CENTROMERE; CLEFT LIP; CONGENITAL MALFORMATION; CYTOLOGY; ECHOGRAPHY; FATALITY; FEMALE; FETUS DISEASE; GENETICS; HEART SEPTUM DEFECT; HUMAN; LYMPHOCYTE; MULTIPLE MALFORMATION SYNDROME; PREGNANCY;

ABNORMALITIES, MULTIPLE; ADULT; AORTA; CENTROMERE; CLEFT LIP; FATAL OUTCOME; FEMALE; FETAL DISEASES; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; LYMPHOCYTES; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0030103158     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.1996.07030208.x     Document Type: Article

References (5)

1. Freeman, M. V. R., Williams, D. W., Schimke, N., Temtamy, S. A., Vachier, E. and German, J. (1974). The Roberts syndrome. Clin. Genet., 5, 1-16
2. Mann, N. P., FitzSimmons, J., FitzSimmons, E. and Cooke, P. (1982). Roberts syndrome: clinical and cytogenetic aspects. J. Med. Genet., 19, 16-19
3. German, J. (1979). Roberts' syndrome. 1. Cytological evidence for a disturbance in chromatid pairing. Clin. Genet., 16, 441-7
4. Stioui, S., Privitera, O., Brambati, B., Zuliani, G., Lalatta, F. and Simoni, G. (1992). First-trimester prenatal diagnosis of Roberts syndrome. Prenat. Diagn., 12, 145-9
5. Stanley, W. S., Shashidhar, P. G., Horger, E. O., Yongshan, Y. and McNeal, K. (1988). Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. Prenat. Diagn., 8, 565-9