Interstitial Duplication of 2q32.1-q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior

Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3

(2011) Akihisa Okumura et al.   EPILEPSIA

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis

(2011) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

(2010) Keiko Shimojima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 includingITGB6

(2010) Shinichi Takatsuki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Partial trisomy 2q

(2010) Robert E. Schumacher et al.   CLINICAL GENETICS

A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder

(2009) Keiko Shimojima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2q31.2q32.3 deletion syndrome: Report of an adult patient

(2009) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype

(2009) Miriam Elbracht et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inverted duplications deletions: underdiagnosed rearrangements??

(2009) O Zuffardi et al.   CLINICAL GENETICS

CNV and nervous system diseases – what’s new?

(2009) W. Gu et al.   CYTOGENETIC AND GENOME RESEARCH

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements

(2009) L R Rowe et al.   JOURNAL OF MEDICAL GENETICS

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One

Satb2 Is a Postmitotic Determinant for Upper-Layer Neuron Specification in the Neocortex

(2008) Olga Britanova et al.   NEURON

Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex

(2008) Elizabeth A. Alcamo et al.   NEURON