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

Prenat Diagn. 1998 May;18(5):490-5.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Bone and Bones / abnormalities*
  • Chromosomes, Human, Pair 16*
  • Cranial Sutures / abnormalities
  • Cranial Sutures / diagnostic imaging
  • Female
  • Frontal Bone / abnormalities
  • Frontal Bone / diagnostic imaging
  • Gene Deletion*
  • Genetic Linkage
  • Gestational Age
  • Humans
  • Karyotyping
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis*
  • Skull / abnormalities*
  • Skull / diagnostic imaging
  • Ultrasonography, Prenatal*