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OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 patients with PGM1-CDG who were divided into 3 phenotypic groups, and group assignment was validated by a scoring system, the Tulane PGM1-CDG Rating Scale (TPCRS). This scale evaluates measurable clinical features of PGM1-CDG. We examined the relationship between genotype, enzyme activity, and TPCRS score by using regression analysis. Associations between the most common clinical features and disease severity were evaluated by principal component analysis. RESULTS: We found a statistically significant stratification of the TPCRS scores among the phenotypic groups (P < .001). Regression analysis showed that there is no significant correlation between genotype, enzyme activity, and TPCRS score. Principal component analysis identified 5 variables that contributed to 54% variance in the cohort and are predictive of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth. CONCLUSIONS: We established a scoring algorithm to reliably evaluate disease severity in patients with PGM1-CDG on the basis of their clinical history and presentation. We also identified 5 clinical features that are predictors of disease severity; 2 of these features can be evaluated by physical examination, without the need for specific diagnostic testing and thus allow for rapid assessment and initiation of therapy.

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Background: The Isochromosome 18q and chromosome 18 short arm deletion (18p-) constitute structural anomalies that are reported with certain frequency in the literature. However, the association of both abnormalities in a patient is very uncommon. Objective: Description of a clinical case of Isochromosome 18 with emphasys in the few phenotypic manifestations. Case-report: Female infant 18 months-old, with short stature, minor dysmorphic features and a slight psychomotor developmental delay, whose chromosomal study in peripheral blood showed a chromosomal mosaicism with two cell lines: chromosome 18 long arm isochromosome and deletion of chromosome 18 short arm. The chromosomal analysis of both parents did not show numerical neither morphological alterations. Discussion: This case illustrates the importance of requesting a karyotype in patients with small stature, dysmorphic features and/or malformations. The patient clinical features are compared with other similar cases described in the literature. The coexistence of both structural abnormalities (mosaicism) is extremely uncommon.

Introducción: El Isocromoma 18q y la deleción del brazo corto del cromosoma 18 (18p-), son anomalías estructurales que se reportan con cierta frecuencia en la literatura. Sin embargo, la asociación de ambas alteraciones en una misma paciente es muy infrecuente. Objetivo: Descripción de un caso clínico de Isocromosoma 18 con énfasis en la escasas manifestaciones fenotípicas. Caso Clínico: Lactante femenino de 18 meses de edad portador de talla baja, dismorfias menores y un leve retraso del desarrollo sicomotor, cuyo estudio cromosómico en sangre periférica mostró un mosaico compuesto por un isocromosoma del brazo largo del cromosoma 18 y otro cromosoma 18 con deleción del brazo p. El análisis cromosómico de ambos padres no mostró alteraciones numéricas ni morfológicas. Discusión: Este caso ilustra la importancia de solicitar un cariograma en pacientes con talla baja, dismorfias y/o malformaciones. Se describen las malformaciones encontradas y se compara con otros casos similares descritos en la literatura. La alteración estructural en mosaico reportada es sumamente infrecuente.

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Objetivo. Identificar los signos clínicos más frecuentes en pacientes con Síndrome de Turner.Diseño Corte transversal. Lugar: Instituto de Genética; La Paz, Bolivia.Población 36 pacientes con diagnóstico citogenético. Métodos: Recolección de datos clínicos de pacientes con Síndrome de Turner períodos 1990-2004. Se excluyeron pacientes que presentaban similares fenotipos y con cariotipo no compatible. Resultados: Manifestaciones clínicas más frecuentes: baja talla proporcionada 77.8%, disgenesia gonadal 61.1%, pterigium colli 27.8%, displasia de pabellones auriculares 33.3%. La edad de diagnóstico corresponde: < 5años 11.1%, entre 10 a 14 años 44.4%. Citogeneticamente el 72% fueron 45 X0, 28% mosaicos. Conclusión: Clínicamente el Síndrome de Turner es variable, y es diagnosticado más frecuentemente durante la adolescencia, etapa en la que se perdieron oportunidades para un adecuado tratamiento que coadyuve a prevenir complicaciones.El fenotipo de esta cromosomopatía actualmente a sido relacionado con mutaciones de genes como RPS4X y SOS.

Objective. Identify the most frequents clinical Turner syndrome patients features. Design Cross section. Place Genetic Institute, La Paz, Bolivia. Participants 36 patients with Turner Syndrome. Methods Clinical features data were collected from Genetic Institute records. Patients with similar clinical features with out cariotyping diagnosis where not included. Results We find small stature 77.8%, gonads dysgenesis 61.1%, pterigium colli 27.8%, anomalous auricles 33.3%. Age of diagnosis was less than 5 years 11.1%, between to 10 to 14 years 44.4%. Cytogenetic analysis report monosomy in 72% , mosaics (28%). Conclusions The clinical features of Turner Syndrome are variable, the diagnosis it's most frequency during puberty, age where could it be late to prevent consequences. The phenotype of Turner Syndrome has been related to RPS4X and SOS genes.

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