Subject(s)
Developing Countries , Genetics, Medical , Primary Health Care , Breast Feeding , Child Health Services/organization & administration , Child, Preschool , Congenital Abnormalities/prevention & control , Family Planning Services , Genetics, Medical/organization & administration , Health Services Needs and Demand , Humans , Infant , Infant, Newborn , Primary Health Care/organization & administrationABSTRACT
We describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS.
Subject(s)
Abnormalities, Multiple/genetics , Consanguinity , Facial Bones/abnormalities , Polydactyly/genetics , Skull/abnormalities , Africa , Child , Humans , Infant , Male , SyndromeABSTRACT
A comprehensive genetic/diagnostic survey was undertaken at a special school for the mentally retarded involving 105 patients. Cytogenetic, biochemical and clinical investigations were undertaken to establish the contribution of the genetic factors to the problem of mental retardation. Apart from obtaining information about specific children, identifying families at risk, and providing genetic counselling in nearly 50% of cases, data was obtained which could be compared with other similar surveys. According to the aetiological groupings of the patients, 6.7% could be attributed to perinatal damage, 17.1% to chromosomal defects, 4.8% to biochemical disorders, 5.7% to other genetic causes, 12.4% to other prenatal damage, 1.9% to infections, and 51.4% to unknown causes. No individual with the marker X syndrome was found in this group.
Subject(s)
Intellectual Disability/genetics , Adolescent , Adult , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acids/urine , Child , Child, Preschool , Chromosome Aberrations/genetics , Chromosome Disorders , Down Syndrome/genetics , Epilepsy/genetics , Female , Humans , Intellectual Disability/diagnosis , Sex Chromosome Aberrations/genetics , South Africa , X ChromosomeSubject(s)
Genetic Markers , X Chromosome , Female , Heterozygote , Humans , Intellectual Disability/genetics , MaleABSTRACT
We present here a familial case of a paracentric inversion in man with a short review of the literature. A paracentric inversion of chromosome 10(q11q26) was found in the amniocytes drawn for advanced maternal age. The presence of the inversion was investigated in 35 family members in three generations. No recombinants were recognized. The significance of these data for appropriate genetic counselling and possible reproductive risks is discussed.
