RT Journal Article
SR Electronic
T1 Neurological expression of an inherited translocation of chromosomal 1 and 7
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 62
OP 64
DO 10.17712/nsj.2017.1.20160436
VO 22
IS 1
A1 AlMajhad, Nabil A.
A1 AlHashem, Amal M.
A1 Bouhjar, Inesse A.
A1 Tabarki, Brahim M.
YR 2017
UL http://nsj.org.sa/content/22/1/62.abstract
AB An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.