1.
Am J Med Genet A
; 143A(10): 1104-7, 2007 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17431907
RESUMO
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.