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[Ring chromosome 9. Case report and review of the literature]
S Manouvrier-Hanu1, D Turck, F Gottrand
1Service de génétique et maladies héréditaires du métabolisme, Hôpital Huriez, CHR, Lille.
Annales De Genetique
|January 1, 1988
Abstract:
We report on a girl with ring chromosome 9, and review the 9 other cases of the literature. The main signs of this de novo chromosomal anomaly are: severe microcephaly, growth and psychomotor retardations, and heart malformations. Infectious complications occurs often. We found a decreased level of leucocyte interferon.