Interestingly, in three couples who had an SMA child, both the parents had two SMN1 copies. Families of this type have not been previously reported. Our results emphasize the importance of performing a detailed carrier study in SMA parents with two SMN1 copies. Expanding the analysis to other ...
Muscle MRI of the pelvis (p), thighs (q), and legs (r) and muscle biopsy (s and t) of a 16 years old male patient with molecularly confirmed Spinal Muscular Atrophy with homozygous deletion of the exons 7 and 8 of the SMN1 gene, with the SMN2 gene presenting 4 copies of the ...
However, four parents (4%) were observed to have a normal two-copy SMN1 dosage. The presence of two intact SMN1 genes in the parent of an affected child indicates either the occurrence of a de novo mutation event or a situation in which one chromosome has two copies of SMN1, whereas ...
Previous association of SMN1 variants c.*3 + 80 T > G and c.*211_*212del with two SMN1 copies in cis in Ashkenazi population prompted us to analyze them in 270 Spanish individuals (SMA carriers, patients and general population). Both variants were much more frequently detected ...
Hybrids monoso- mal for human chromosome reveals the presence of a spinal mus- cular atrophy (spinal muscular atrophy) carrier with two SMN1 copies on one chromosome. Hum Genet. 2001;108:109-115.Mailman MD, Hemingway T, Darsey RL, et al. Hybrids monosomal for human chromosome 5 reveal ...