A patient with 13q-syndrome with mild mental retardation and with growth retardation.
We report on a patient with deletion 13q33.3-->qter having growth retardation but no severe mental retardation. He was microcephalic and had hypotonia, large, low set ears, depressed nasal bridge, hypertelorism, small chin, high and broad forehead and bilateral simian creases. FISH was carried out using a telomeric probe of chromosome 13. Only one chromosome 13 showed a signal. Whole chromosome 13 probe showed that there was no 13q material on another chromosome. The karyotypes of the parents were normal.
Stoll
C
C
Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.
Alembik
Y
Y
D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D017353:Gene Deletion; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male