Publications by authors named "Caridad Martinez Basalo"
Article Synopsis
- A 4,000 g baby girl presented with multiple severe congenital anomalies, including duplicated lower limbs and pelvis, spina bifida, and various issues in the digestive and renal systems.
- The medical team hypothesizes that this case represents a new instance of disorganization in humans (DsH), indicating a significant developmental defect.
- The pattern of malformations suggests that the abnormalities likely originated during early developmental stages (blastogenesis), affecting multiple body structures and systems derived from all germ layers.
[Carrier detection of Duchenne/Becker muscular dystrophy by analysis of STRs loci linked to the gene of dystrophin in Venezuelan families].
Wilmer Noé Delgado-Luengo Lisbeth Borjas-Fuentes William Zabala-Fernández Erika Fernández-Salgado Ernesto Solís-Añez Caridad Martínez-Basalo
Invest Clin
December 2002
The Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X linked recessive lethal disease. The female carrier will transmit the disease gene to half of her sons and half of her daughters; half of the daughters will be carriers, while half will be normal. Half of the sons will be normal and, on average, half will have the disease.
View Article and Find Full Text PDFA 9-year-old patient with the classical clinical picture of Hutchinson-Gilford progeria (HGP) is described. The karyotype shows a 46,XY,del(1)(q23) constitution. Our findings suggest that the interval 1q23 may play a roll in the etiology of HGP.
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