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- Title
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.
- Authors
Chen, Chih-Ping; Chern, Schu-Rern; Lee, Chen-Chi; Chen, Li-Feng; Chuang, Chun-Yu
- 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. © 1998 John Wiley & Sons, Ltd.
- Publication
Prenatal Diagnosis, 1998, Vol 18, Issue 5, p490
- ISSN
0197-3851
- Publication type
Article
- DOI
10.1002/(SICI)1097-0223(199805)18:5<490::AID-PD281>3.0.CO;2-4