Partial trisomy 7q and subtelomeric monosomy 20p. Clinical presentation of a case and review

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCThe partial trisomy 7q is characterized by the presence of dysmorphic features, low birth weight, hypotonia, renal and skeletal anomalies, pulmonary hypoplasia and cardiac defects. The subtelomeric 20p monosomy, is a very rare anomaly which has only being reported in a patient with developmental delay and microcephaly, dysmorphism, and seizures. We report on a new case with partial trisomy 7q with facial dysmorphism and psychomotor delay, whose high resolution G-band karyotype showed an abnormal chromosome 20. Fluorescence in situ hybridization (FISH) analysis showed that in the short arm of the chromosome 20 (20p) there was extra material from chromosome 7 origin. Thus the infant has partial trisomy 7q and a subtelomeric monosomy 20p. Paternal chromosomes were normal. The karyotype was 46,XY,add(20)(p13).ish der(20)t(7;20)(q33;p13)(tel20p-)(WCP20-)(tel 7q+) "de novo".N

Down syndrome as risk factor for respiratory syncytial virus hospitalization : A prospective multicenter epidemiological study

Respiratory syncytial virus (RSV) infection in childhood, particularly in premature infants, is associated with significant morbidity and mortality. To compare the hospitalization rates due to RSV infection and severity of disease between infants with and without Down syndrome (DS) born at term and without other associated risk factors for severe RSV infection. In a prospective multicentre epidemiological study, 93 infants were included in the DS cohort and 68 matched by sex and data of birth (±1 week) and were followed up to 1 year of age and during a complete RSV season. The hospitalization rate for all acute respiratory infection was significantly higher in the DS cohort than in the non-DS cohort (44.1% vs 7.7%, P<.0001). Hospitalizations due to RSV were significantly more frequent in the DH cohort than in the non-DS cohort (9.7% vs 1.5%, P=.03). RSV prophylaxis was recorded in 33 (35.5%) infants with DS. The rate of hospitalization according to presence or absence of RSV immunoprophylaxis was 3.0% vs 15%, respectively. Infants with DS showed a higher rate of hospitalization due to acute lower respiratory tract infection and RSV infection compared to non-DS infants. Including DS infants in recommendations for immunoprophylaxis of RSV disease should be considered