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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



  history
ID: 26926.0, MPI für molekulare Genetik / Research Group Development and Disease
Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis
Authors:Urban, Maik; Bommer, Christiane; Tennstedt, Cornelia; Lehmann, Katarina; Thiel, Gundula; Wegner, Rolf-Dieter; Bollmann, Rainer; Becker, Rolf; Schulzke, Ines; Körner, Hannelore
Language:English
Date of Publication (YYYY-MM-DD):2002-01-16
Title of Journal:American Journal of Medical Genetics
Volume:108
Issue / Number:2
Start Page:97
End Page:104
Review Status:not specified
Audience:Experts Only
Abstract / Description:Prenatal and postnatal findings in three fetuses with a ring chromosome 6 are presented, and the literature of this rare cytogenetic disorder is reviewed. The described fetuses illustrate the broad spectrum of the clinical manifestation of ring chromosome 6. In one fetus, the disorder was diagnosed incidentally by a routine amniocentesis due to advanced maternal age. The other two fetuses were hydrocephalic and had other congenital anomalies. Remarkably, the ring chromosome 6 tends to disappear in cultured amniotic fluid cells; karyotyping revealed complete or nearly complete monosomy 6. In contrast, the ring was preserved in high proportions of fetal leukocytes. Postnatal growth retardation is the only consistent finding of this chromosomal disorder. Maternal age is not significantly above average. An additional review of 20 literature cases revealed a striking tendency to hydrocephalus, either due to deficient brain growth or secondary to an aqueductal stenosis. Children with hydrocephalus and ring chromosme 6 tend to display facial dysmorphism and may have additional malformations, growth failure, eye anomalies, and seizures. In contrast, there are two reports on children with a ring chromosome 6 who had short stature, normal appearance, and a normal or almost-normal psychomotor development. In such patients at the mild end of the clinical spectrum, the phenotype is basically restricted to what Kosztolányi. [1987: Hum Genet 75:174-179] delineated as ring syndrome, comprising severe growth failure without major malformations, without a specific deletion syndrome, with only a few or no minor anomalies, and mild to moderate mental retardation. This ring syndrome is considered to occur independently of the autosome involved in the ring formation. The overall impression from our cases and from the literature review of cases with ring chromosome 6 is that the karyotype-genotype correlation is poor. This makes prognostic counseling of parents difficult and unsatisfactory. Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis.
Free Keywords:hydrocephalus • ring chromosome 6 • ring autosome • ring syndrome • monosomy 6 • prenatal diagnosis • prenatal ultrasound
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:Institut für Medizinische Genetik, Universitätsklinikum Charité, Humboldt-Universität zu, Berlin
Institut für Pathologie, Universitätsklinikum Charité, Humboldt-Universität zu, Berlin
Institut für Humangenetik, Universitätsklinikum Charité, Humboldt-Universität zu, Berlin
Universitätsfrauenklinik, Universitätsklinikum Charité, Humboldt-Universität zu, Berlin
Universitätsfrauenklinik, Klinikum Benjamin Franklin, Freie Universität, Berlin
Klinikum Ernst von Bergmann, Abteilung für Humangenetik, Potsdam
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