RESUMEN
Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA.
Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Análisis Citogenético/métodos , Discapacidades del Desarrollo/genética , Discapacidad Intelectual/genética , Anomalías Múltiples/etiología , Actividades Cotidianas , Adolescente , Niño , Preescolar , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 13/genética , Cromosomas Humanos Par 18/genética , Discapacidades del Desarrollo/etiología , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Femenino , Humanos , Discapacidad Intelectual/etiología , Cariotipificación , Masculino , Rwanda , Trisomía/diagnóstico , Trisomía/genética , Síndrome de la Trisomía 13 , Síndrome de la Trisomía 18RESUMEN
Duchenne and Becker muscular dystrophies are the most common clinical forms of muscular dystrophies. They are genetically X-linked diseases caused by a mutation in the dystrophin (DMD) gene. A genetic diagnosis was carried out in six Rwandan patients presenting a phenotype of Duchenne and Becker muscular dystrophies and six asymptomatic female carrier relatives using multiplex ligation-dependent probe amplification (MLPA). Our results revealed deletion of the exons 48-51 in one patient, an inherited deletion of the exons 8-21 in two brothers and a de novo deletion of the exons 46-50 in the fourth patient. No copy number variation was found in two patients. Only one female carrier presented exon deletion in the DMD gene. This is the first cohort of genetic analysis in Rwandan patients affected by Duchenne and Becker muscular dystrophies. This report confirmed that MLPA assay can be easily implemented in low-income countries.
Asunto(s)
Variaciones en el Número de Copia de ADN/genética , Análisis Mutacional de ADN/métodos , Distrofina/genética , Exones/genética , Reacción en Cadena de la Polimerasa Multiplex/métodos , Distrofia Muscular de Duchenne/genética , Adolescente , Niño , Preescolar , Femenino , Eliminación de Gen , Pruebas Genéticas , Humanos , Masculino , Distrofia Muscular de Duchenne/diagnóstico , Mutación/genética , Fenotipo , RwandaRESUMEN
INTRODUCTION: Congenital heart diseases (CHD) are commonly associated with genetic defects. Our study aimed at determining the occurrence and pattern of CHD association with genetic defects among pediatric patients in Rwanda. METHODS: A total of 125 patients with clinical features suggestive of genetic defects were recruited. Echocardiography and standard karyotype studies were performed in all patients. RESULTS: CHDs were detected in the majority of patients with genetic defects. The commonest isolated CHD was ventricular septal defect found in many cases of Down syndrome. In total, chromosomal abnormalities represented the majority of cases in our cohort and were associated with various types of CHDs. CONCLUSION: Our findings showed that CHDs are common in Rwandan pediatric patients with genetic defects. These results suggest that a routine echocardiography assessment combined with systematic genetic investigations including standard karyotype should be mandatory in patients presenting characteristic clinical features in whom CHD is suspected to be associated with genetic defect.