TY - JOUR
T1 - Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis
AU - Pressey, Tracy L.
AU - Wilson, R. Douglas
AU - Kasperski, Stefanie
AU - Bebbington, Michael W.
AU - Adzick, N. Scott
PY - 2007/5/15
Y1 - 2007/5/15
N2 - 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.
AB - 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.
KW - Chromosome 1
KW - Chromosome X
KW - Congenital cystic adenomatoid malformation of lung
KW - Genetic translocation
KW - Hydrops fetalis
KW - Prenatal diagnosis
UR - http://www.scopus.com/inward/record.url?scp=34248147082&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31707
DO - 10.1002/ajmg.a.31707
M3 - Article
C2 - 17431907
AN - SCOPUS:34248147082
SN - 1552-4825
VL - 143
SP - 1104
EP - 1107
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 10
ER -