2014, Number 1

Contents

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Cytosolic superoxide dismutase and genetic diseases

Yaisa Castillo Casaña; Riverón Forment, Gretel

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Chromosomopathies echographic markers and results of prenatal cytogenetic diagnosis in Camagüey: 2007-2013

Pimentel Benítez, Héctor Ignacio; Felicia Amaralis Tru Martínez; Arrieta García, Rosaralis; Natacha Figueroa Barciela; Frankel Peña García; Paz Román, Mabel

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Determination of long-chain fatty acids in serum by gas chromatography coupled to mass spectrometry

Nuevas Paz, Lauro; Camayd Viera, Ivette

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Immunoglobulin levels and clinical manifestations in a group of genetic diseases patients

Torres Rives, Bárbara; Martínez Téllez, Goitybell; Lantigua Cruz, Araceli; Rodríguez Pelier, Cira; Marín Padrón, Liliam; Tassé Vila, Denia; Zúñiga Rosales, Yaíma

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Optimum cutting point for the confirmatory diagnosis of hyperphenylalaninemia by HPLC

Fuentes Smith, Lisset Evelyn; Contreras Roura, Jiovanna; Alonso Jiménez, Elsa; Martínez Rey, Laritza

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Clinical-genetic relation in a sample of patients with Turner syndrome

Vega Conejo, Viviana; Aracely Lantigua Cruz; Carlos Viñas Portilla; Barrios Martínez, Anduriña; Nereyda González García; Elena del Monte Sotolongo

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Aneuploidies and structural alterations in patients with X-chromosome-related genetic diseases

Barrios Martínez, Anduriña; Méndez Rosado, Luis A; Morales Rodríguez, Enny; González García, Nereida; del Sol González, Marilyn; Medina Reyes, Yanairis; Suarez Mayedo, Ursulina

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Rhizomelic chondrodysplasia punctata. A case presentation

Chiong Quesada, Carmen María; Trull Martínez, Amaralis; Paz Román, Mabel; de la Fuente Carbonell, Sofía Marela; Elizabeth Angulo Cebada

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Deletion of the long branch of the 4(q34→qter) chromosome. Report of cytogenetic finding in one case

del Sol González, Marilyn; González García, Nereida; Tasé Vila, Denia; Suarez Mayedo, Ursulina; Calixto Robert, Yohandra