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
✍ Scribed by Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Li-Feng Chen; Chun-Yu Chuang
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 144 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
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.