Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops.
Terminal deletion of 7q presents with variable anatomical and developmental findings. This case is the first reported in utero diagnosis based on cytogenetic findings and in utero demonstration of resolving congestive heart failure due to a truncus arteriosus.
Finley
B E
BE
Department of Obstetrics and Gynecology, University of Kansas Medical Center, Kansas City 66160.
Seguin
J H
JH
Bennett
T L
TL
Ardinger
R
R
Burlbaw
J
J
Levitch
L
L
Keifer
C
C
Pasztor
L
L
D000649:Amniocentesis; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016615:Telomere; D014339:Truncus Arteriosus, Persistent / Q000175:diagnosis / Q000235:genetics*; D016216:Ultrasonography, Prenatal