ABSTRACT
Triploidy is a rare disorder in live-born children and these infants generally die within the first hours after birth. We report here on a girl with full triploidy and multiple malformations, who survived for 10 1/2 weeks. The extra set of haploid chromosomes was of paternal origin, as shown by chromosomal banding techniques.
Subject(s)
Abnormalities, Multiple , Aneuploidy , Polyploidy , Fathers , Female , Humans , InfantABSTRACT
A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients. The data obtained were used to test the frameshift hypothesis and to compare the distribution of familial versus isolated cases. A significant correlation was found between deletions and isolated cases. Additional experiments were performed in order to determine the deletion breakpoints more precisely. These data are a prerequisite for carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments derived from ectopic lymphocyte RNA. This diagnostic technique is illustrated by 5 examples.
Subject(s)
Dystrophin/genetics , Gene Deletion , Muscular Dystrophies/genetics , X Chromosome , Base Sequence , Female , Humans , Male , Molecular Sequence Data , Oligonucleotide Probes/genetics , Polymerase Chain ReactionABSTRACT
The detailed genetic analysis of the Duchenne/Becker muscular dystrophy gene is hindered by the large number of exons involved and their separation by huge introns. These problems can be overcome by the analysis of mRNA rather than genomic DNA and ectopic transcripts derived from peripheral blood lymphocytes provide a convenient source of material. Using reverse transcription and nested PCR, we show here a comprehensive strategy for the rapid and complete analysis of the coding sequences from complex genes and illustrate its potential by the identification of a hitherto undescribed single exon deletion.
Subject(s)
Dystrophin/genetics , Muscular Dystrophies/genetics , Polymerase Chain Reaction/methods , RNA, Messenger/genetics , Sequence Deletion , Base Sequence , Child, Preschool , DNA/analysis , Exons , Humans , Lymphocytes/chemistry , Male , Molecular Sequence Data , RNA-Directed DNA Polymerase , Transcription, GeneticABSTRACT
The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with ACS III (Saethre-Chotzen syndrome), 5 of them severely. Clinical features of the patients are presented with regard to differential diagnostic delineations.
