Four siblings with Robert's syndrome.
A Yugoslav family with one female and three male children with Robert's syndrome (RS) is described. To our knowledge, there is no other family with four siblings presenting this genopathy. Most of the symptoms of the fourth sibling were identical to those found in the SC syndrome, suggesting the same genetic origin. The same chromosomal changes which were discovered in the third sibling were also found in the fourth sibling. These chromosomal abnormalities could prove useful for antenatal diagnosis.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011296:Prenatal Diagnosis; D012854:Sister Chromatid Exchange; D012886:Skull / Q000002:abnormalities; D013577:Syndrome