Interstitial deletion and ring chromosome derived from 16q.
نویسندگان
چکیده
An interstitial deletion of 16q was identified in an infant with failure to thrive, dysmorphic facies, and congenital heart defects. The mother of this infant had a similar deletion of 16q with ring formation of a fragment presumed to be derived from the deleted portion of 16q. We discuss these cases and compare them to other reports of 16q deletions.
منابع مشابه
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.
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 ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 24 5 شماره
صفحات -
تاریخ انتشار 1987