White matter changes associated with deletions of the long arm of chromosome 18 (18q-syndrome): a dysmyelinating disorder?

LA Loevner, RM Shapiro… - American journal …, 1996 - Am Soc Neuroradiology
PURPOSE To evaluate the MR findings in the central nervous systems of patients with
deletions of the long arm of chromosome 18 (18q-syndrome). METHODS Sixteen patients …

Cerebral white matter abnormalities in 6p25 deletion syndrome

MS Van Der Knaap, M Kriek… - American journal …, 2006 - Am Soc Neuroradiology
Submicroscopic deletion of the terminal part of the short arm of chromosome 6, including
6p25, leads to developmental retardation, hearing impairment, ocular dysgenesis, and …

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

TT Linnankivi, TH Autti, SH Pihko… - Journal of Magnetic …, 2003 - Wiley Online Library
Purpose To study brain MRI findings in patients with 18q− syndrome and to correlate these
findings with the results of the molecular breakpoint analysis. Materials and Methods Brain …

Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination

R Tanaka, N Iwasaki, M Hayashi, J Nakayama… - Brain and …, 2012 - Elsevier
BACKGROUND: 18q-Syndrome is a chromosomal disorder exhibiting various symptoms
arising from the central nervous system. Brain magnetic resonance imaging (MRI) of patients …

Abnormal myelination in a patient with deletion 14q11. 2q13. 1

GP Ramelli, L Remonda, KO Lövblad, H Hirsiger… - Pediatric …, 2000 - Elsevier
A male carrying an interstitial deletion of chromosome 14, presumably del (14)(q11. 2q13),
and presenting with abnormal myelination on magnetic resonance imaging is described …

Central nervous system abnormalities in chromosome deletion at 11q23

J Ono, K Harada, T Hasegawa, K Sakurai… - Clinical …, 1994 - Wiley Online Library
Two Japanese pediatric patients with terminal deletion of the long arm of chromosome 11
are described. Both had the morphological abnormalities of the 11q deletion syndrome …

Magnetic resonance imaging demonstrates incomplete myelination in 18q‐syndrome

CT Gay, LJ Hardies, RA Rauch… - American journal of …, 1997 - Wiley Online Library
Magnetic resonance imaging (MRI) and MRI relaxometry were used to investigate disturbed
brain myelination in 18q‐syndrome, a disorder characterized by mental retardation …

White matter alterations associated with chromosomal disorders

A García-Cazorla, A Sans, M Baquero… - … medicine and child …, 2004 - cambridge.org
White matter alterations in chromosomal disorders have been reported mainly in 18q–
syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal …

Neurologic manifestations in 18q–syndrome

G Miller, PN Mowrey, KD Hopper… - American journal of …, 1990 - Wiley Online Library
We report a mother and son with a deletion at 18q22. 3. Both have the typical manifestations
of the 18q–syndrome. In addition, both have an action tremor which became apparent in …

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals

T Linnankivi, P Tienari, M Somer… - American Journal of …, 2006 - Wiley Online Library
We studied 14 individuals with partial deletions of the long arm of chromosome 18, including
terminal and interstitial de novo and inherited deletions. Study participants were examined …