Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq).


Journal Article (Review)

After ultrasound diagnosis of a fetus with severe hydrocephalus and Dandy-Walker malformation, amniocentesis revealed chromosomal mosaicism for dup(lq) and del(Xq). The neonate had dysmorphic facial features, vertebral abnormalities, and pulmonary hypoplasia, and expired shortly after birth. This report confirms the poor prognosis reported for partial trisomies involving the long arm of chromosome number 1.

Full Text

Duke Authors

Cited Authors

  • Wells, SR; Kuller, JA; Rao, KW; Aylsworth, AS

Published Date

  • April 1996

Published In

Volume / Issue

  • 49 / 4

Start / End Page

  • 216 - 219

PubMed ID

  • 8828989

Pubmed Central ID

  • 8828989

International Standard Serial Number (ISSN)

  • 0009-9163

Digital Object Identifier (DOI)

  • 10.1111/j.1399-0004.1996.tb03290.x


  • eng

Conference Location

  • Denmark