ABSTRACT
We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A-V) canal defect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes.
Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 16 , Fetal Growth Retardation/genetics , Heart Defects, Congenital/genetics , Abnormalities, Multiple/genetics , Adult , DNA/analysis , Female , Humans , Mosaicism , Pregnancy , Scoliosis/genetics , TrisomyABSTRACT
We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.
Subject(s)
Chromosome Aberrations , Growth Disorders/genetics , Intellectual Disability/genetics , Microcephaly/genetics , Mosaicism , Mutation , Abnormalities, Multiple/genetics , Adult , Female , Humans , Infant, Newborn , Male , PhenotypeABSTRACT
The pharmacokinetics and clinical efficacy of amoxycillin combined with clavulanic acid in the treatment of 32 children with urinary tract infection were studied. Twenty one (80%) of 26 children with proved urinary tract infection showed a favourable clinical and bacteriological response. Fifteen of these children had amoxycillin resistant organisms and were treated successfully. In 20 children the serum and urine concentrations of amoxycillin and clavulanic acid were measured after the first oral dose.
