PT  - JOURNAL ARTICLE
AU  - AlMajhad, Nabil A.
AU  - AlHashem, Amal M.
AU  - Bouhjar, Inesse A.
AU  - Tabarki, Brahim M.
TI  - Neurological expression of an inherited translocation of chromosomal 1 and 7
AID  - 10.17712/nsj.2017.1.20160436
DP  - 2017 Jan 01
TA  - Neurosciences Journal
PG  - 62--64
VI  - 22
IP  - 1
4099  - http://nsj.org.sa/content/22/1/62.short
4100  - http://nsj.org.sa/content/22/1/62.full
SO  - Neurosciences (Riyadh)2017 Jan 01; 22
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.