Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
H Van Esch, EM Rosser, S Janssens… - Journal of medical …, 2010 - jmg.bmj.com
Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases
represent large, cytogenetically detectable deletions. The implementation of array …
represent large, cytogenetically detectable deletions. The implementation of array …
Characterization of an interstitial deletion 6q13–q14. 1 in a female with mild mental retardation, language delay and minor dysmorphisms
J Lespinasse, S Gimelli, F Béna, SE Antonarakis… - European journal of …, 2009 - Elsevier
Chromosomal imbalances, recognized as the major cause of mental retardation (MR), are
often due to submicroscopic deletions or duplications not evidenced by conventional …
often due to submicroscopic deletions or duplications not evidenced by conventional …
Proximal deletion of 6q overlapping with Toriello-Carey facial phenotype: prenatal findings, clinical course, differential diagnosis, and review
S Catena, M Aracena, Ó Pizarro, K Espinoza… - Molecular …, 2017 - karger.com
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients
have deletions of different sizes but share partial overlap and present with similar clinical …
have deletions of different sizes but share partial overlap and present with similar clinical …
A de novo proximal 6q deletion confirmed by array comparative genomic hybridization
KS Woo, JE Kim, KE Kim, MJ Kim… - The Korean Journal …, 2010 - synapse.koreamed.org
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we
report on a de novo interstitial deletion of (6)(q13q16. 2) in a girl with facial dysmorphism …
report on a de novo interstitial deletion of (6)(q13q16. 2) in a girl with facial dysmorphism …