Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis

Tracy L. Pressey, R. Douglas Wilson, Stefanie Kasperski, Michael W. Bebbington, N. Scott Adzick

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)1104-1107
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number10
DOIs
StatePublished - May 15 2007
Externally publishedYes

Keywords

  • Chromosome 1
  • Chromosome X
  • Congenital cystic adenomatoid malformation of lung
  • Genetic translocation
  • Hydrops fetalis
  • Prenatal diagnosis

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