Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis.
We report on the prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops. The finding of hydrops in a fetus with a small lung lesion, congenital cystic adenomatoid malformation (CCAM) volume to head circumference ratio (CVR) 0.78, prompted cytogenetic analysis of amniotic fluid, revealing an unbalanced translocation between chromosomes X and 1 [46,X,der(X)t(X;1)(p11.2;q25 or q31)]. The incidence of chromosomal abnormalities with CCAM lesions is estimated at 1.6%. This is the first reported case of prenatally diagnosed partial trisomy 1q and monosomy X presenting as a fetal lung lesion and hydrops.
Pressey
Tracy L
TL
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, Canada.
Wilson
R Douglas
RD
Kasperski
Stefanie
S
Bebbington
Michael W
MW
Adzick
N Scott
NS
D002878:Chromosomes, Human, Pair 1; D041321:Chromosomes, Human, X; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics*; D008171:Lung Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D009006:Monosomy / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics*