Detection of trisomy 21 in a fetus during the investigation for Tay-Sachs disease [2]

Genetic Counseling

Volumn 15, Issue 1, 2004, Pages 99-100

  Alpman, Asude ^a,c   Bora, E ^a   Karaca, E ^a   Cankaya, T ^a   Onay, H ^a   Cogulu, O ^a   Gunduz, C ^a   Kleijer, W J ^b   Ozkinay, F ^a  

^a EGE UNIVERSITY   (Turkey)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE;

ADULT; AMNIOCENTESIS; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CONSANGUINEOUS MARRIAGE; CONVULSION; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ASSAY; FAMILY HISTORY; FEMALE; GENETIC COUNSELING; HUMAN; INFANT; LETTER; MALE; MENTAL DEFICIENCY; MOTOR RETARDATION; NEUROLOGIC DISEASE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; TAY SACHS DISEASE; TRISOMY 21;

ABORTION, INDUCED; DIAGNOSIS, DIFFERENTIAL; DOWN SYNDROME; FEMALE; FETAL DISEASES; HUMANS; KARYOTYPING; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; TAY-SACHS DISEASE;

EID: 1642464627     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. FERGUSON-SMITH M.A.: Prenatal Diagnosis. The Practioner, 1974, 213, 654-666.
2. MIKKELSEN M.: Cytogenetic Findings in First Trimester Chorionic Villi Biopsies: A Collaborative Study. In: First Trimester Fetal Diagnosis, M. Fraccaro, G. Simoni, B. Brambati (eds). Berlin, Springer-Verlag, 1985, 109-118.
3. HSU L.Y.F.: Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Genetic Disorders and The Fetus Diagnosis, Prevention, and Treatment (third edition). A. Milunsky (ed.). Baltimore and London, The John Hopkins University Press, 1992, 155-210.
4. PHILIP J., BANG J., MADSEN M.: Should the indications for prenatal chromosome analysis be changed? BMJ, 1977, 2, 1117-1119.
5. SIMPSON N.E., DALLAIRE L., MILLER J.R., SIMINOVICH L., HAMERTON J.L., MILLER J., MCKEEN C.: Prenatal diagnosis of genetic disease in Canada: Report of a collaborative study. CMAJ, 1976. 115, 739-748.