Publications (2)0 Total impact
Article: A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation.[show abstract] [hide abstract]
ABSTRACT: A syndrome due to deletion of distal long arm of 1q was delineated by several groups. Up to now different terminal deletions 1q are described often clinically resulting in diagnosed mental retardation syndromes. We report on a 7-year-old male with distal monosomy 1q and additional genetic material on the short arm of chromosome 18. As expected, cytogenetic studies of the infant and his mother showed that the altered regions result from an unbalanced translocation of part of the long arm of chromosome 1. Comparison of our patient's data with those previously reported reveals neurological similarities but an unique genotype-phenotype correlation. The importance of a following better molecular characterization through array comparative genomic hybridization and especially the DNA sequence analysis around its breakpoints are discussed.Minerva pediatrica 06/2012; 64(3):365-7.
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ABSTRACT: The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor development are almost always reported as normal or slightly altered in early childhood. We describe the first case of autism spectrum disorders (ASD) in a patient with FFS, emphasizing that this rare association could be one of many unrecognized underlying features.Minerva pediatrica 08/2011; 63(4):341-4.