[Ring chromosome 9. Case report and review of the literature].
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.
Manouvrier-Hanu
S
S
Service de génétique et maladies héréditaires du métabolisme, Hôpital Huriez, CHR, Lille.
Turck
D
D
Gottrand
F
F
Savary
J B
JB
Loeuille
G A
GA
Deminatti
M M
MM
Farriaux
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D012303:Ring Chromosomes
Le chromosome 9 en anneau. A propos d'un cas et revue de la littérature.