Insights into the ethnic differences in serum ferritin between black and white US adult men.
Although higher serum ferritin (SF) concentrations have been consistently observed among blacks, despite their lower hemoglobin (Hb) concentrations compared with whites, few studies attempted to explain this SF difference. To determine the possible factors contributing to the observed […]
Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003.
In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies 13 and 18. We examined the prevalence and characteristics of these conditions using 1994-2003 data from a population-based surveillance system, the Metropolitan Atlanta […]
Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise.
Single nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome and may underlie differential susceptibility to common genetic diseases. A candidate gene for susceptibility to noise-induced hearing loss (NIHL) is Cadherin 23 […]
Expanded clinical phenotype of women with the FMR1 premutation.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized […]
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
MorÃn M, Viñuela A, Rivera T, Villamar M, Moreno-Pelayo MA, Moreno F, Del Castillo I.
Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
We report on a 7-year-old girl with a phenotype combining mandibuloacral dysplasia (MAD), progeria, and rigid spine muscular dystrophy. Mild proximal weakness, contractures, and rigidity of the spine were the primary findings. Although present since birth, […]
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Autosomal dominant inheritance is described in about 20% of all nonsyndromic hearing loss with currently 54 distinct loci (DFNA1-54), and >20 different genes identified. Seven different unconventional myosin genes are involved in ten different types […]
An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier.
Gillan TL, Davies C, Innes AM, Howard J, Graham L, Chernos J, Bridge PJ, Parboosingh JS.
Molecular Diagnostic Laboratory, Alberta Children\’s Hospital, Calgary, Canada.
Hardikar syndrome: Long term outcome of a rare genetic disorder.
Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. The syndrome is clearly distinct from other previously described syndromes such as Alagille syndrome, congenital hepatic fibrosis, Caroli disease, and […]
Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation.
Terminal deletions of the long arm of chromosome 7 are well known and are frequently associated with hypotelorism or holoprosencephaly due to the involvement of the SHH gene located in 7q36.3. These deletions are easily detectable with […]
