Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.
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.
Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Annette
A
Uwineza
Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Janvier
J
Hitayezu
Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Mauricette
M
Jamar
Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Jean-Hubert
JH
Caberg
Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Seraphine
S
Murorunkwere
Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda.
Ndinkabandi
N
Janvier
Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium.
Vincent
V
Bours
Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda L.MUTESA@ur.ac.rw lmutesa@gmail.com.
Leon
L
Mutesa
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D000203:Activities of Daily Living; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics*; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D012432:Rwanda; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome
Rwandan pediatric patients; chromosomal abnormality; global developmental delay; intellectual disability; karyotype; multiple congenital anomalies