Article (Scientific journals)
Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.
Uwineza, Annette; Hitayezu, Janvier; JAMAR, Mauricette et al.
2016In Journal of Tropical Pediatrics
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Keywords :
Rwandan pediatric patients; chromosomal abnormality; global developmental delay; intellectual disability; karyotype; multiple congenital anomalies
Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Uwineza, Annette
Hitayezu, Janvier
JAMAR, Mauricette ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Caberg, Jean-Hubert ;  Université de Liège - ULiège
Murorunkwere, Seraphine
Janvier, Ndinkabandi
Bours, Vincent ;  Université de Liège > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine
Mutesa, Leon
Language :
English
Title :
Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.
Publication date :
2016
Journal title :
Journal of Tropical Pediatrics
ISSN :
0142-6338
eISSN :
1465-3664
Publisher :
Oxford University Press, United Kingdom
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :
(c) The Author [2015]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
Available on ORBi :
since 07 December 2015

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