Hydrops fetalis as an indication for prenatal chromosome analysis with the example of the diagnosis of a duplication 15q11 and 17q25 due to a familial translocation 15/17.
A child with a combined trisomy 15q11 and 17q25 shows the typical phenotype of partial duplication 17q. The male fetus developed in the 3rd trimenon of pregnancy a nonimmune hydrops fetalis (NIHF). Analysing the chromosomes of 54 cases with NIHF during the 2nd and 3rd trimenon and after birth we found chromosomal abnormalities in 33% of them.
Schwanitz
G
G
Institut für Humangenetik, Universität Bonn, FRG.
Zerres
K
K
Niesen
M
M
Haverkamp
F
F
Schmid
G
G
D002478:Cells, Cultured; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014314:Trisomy; D014463:Ultrasonography