Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones.

Published

Journal Article

De novo interstitial 16q deletion diagnosed in utero has not previously been reported. We present a case of fetal de novo interstitial 16q deletion associated with the sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones. Genetic amniocentesis at 23 weeks' gestation revealed a de novo deletion of 16q13-q22. At birth, the fetus manifested a dysmorphic phenotype correlated with monosomy 16q syndrome. Linkage analysis of the family confirmed the maternal origin and the extent of the deletion. We suggest that prenatal detection of a prominent frontal bone with prominent cranial sutures and shortening of the long bones should prompt cytogenetic analysis looking for a deletion in the long arm of chromosome 16.

Full Text

Cited Authors

  • Chen, CP; Chern, SR; Lee, CC; Chen, LF; Chuang, CY

Published Date

  • May 1998

Published In

Volume / Issue

  • 18 / 5

Start / End Page

  • 490 - 495

PubMed ID

  • 9621384

Pubmed Central ID

  • 9621384

Electronic International Standard Serial Number (EISSN)

  • 1097-0223

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/(sici)1097-0223(199805)18:5<490::aid-pd281>3.0.co;2-4

Language

  • eng