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 cytogen...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-05, Vol.143A (10), p.1104-1107
Main Authors: Pressey, Tracy L., Wilson, R. Douglas, Kasperski, Stefanie, Bebbington, Michael W., Adzick, N. Scott
Format: Article
Language:English
Subjects:
Biological and medical sciences
chromosome 1
Chromosome aberrations
chromosome X
Chromosomes, Human, Pair 1
Chromosomes, Human, X
Classical genetics, quantitative genetics, hybrids
congenital cystic adenomatoid malformation of lung
Cytogenetic Analysis
Diseases of mother, fetus and pregnancy
Female
Fundamental and applied biological sciences. Psychology
genetic translocation
Genetics of eukaryotes. Biological and molecular evolution
Gynecology. Andrology. Obstetrics
Human
Humans
hydrops fetalis
Hydrops Fetalis - diagnosis
Hydrops Fetalis - genetics
Lung Diseases - congenital
Lung Diseases - diagnosis
Lung Diseases - genetics
Medical genetics
Medical sciences
Monosomy - genetics
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Trisomy - genetics
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Summary: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. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31707