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2012 ; 1
(4
): 247-52
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Tigroid pattern of cerebral white matter involvement in chromosome 6p25 deletion
syndrome with concomitant 5p15 duplication
#MMPMID27625832
Balasubramanian M
; Smith K
; Williams S
; Griffiths PD
; Parker MJ
; Mordekar SR
J Pediatr Genet
2012[Dec]; 1
(4
): 247-52
PMID27625832
show ga
Sub-telomeric deletions of the short arm of chromosome 6 are a well-described
clinical entity characterized by developmental impairment, hypotonia, eye
abnormalities and defects in the heart and kidneys. Chromosome 5p terminal
duplication is a rarer entity, associated with developmental impairment and
facial dysmorphism. We report a 3-year-old patient with a chromosome 6p25.1pter
deletion and chromosome 5p15.1pter duplication who had global developmental
impairment and unusual cerebral white matter changes, with hypoplastic corpus
callosum and cerebellar vermis on magnetic resonance imaging -brain scan. We
discuss the differential diagnosis to consider in patients with this appearance
on magnetic resonance imaging -brain scan and reiterate the need for chromosome
analysis in patients with this pattern of developmental anomaly. Tigroid pattern
of cerebral white matter involvement has not been reported in chromosomal
deletion/duplication syndromes. With the increasing use of molecular karyotyping
for patients with multiple congenital anomalies and developmental delay, it is
important to consider the exact size and nature of chromosomal
deletion/duplication, in order to provide families with prognostic information
and recurrence risk. This in turn, will help provide valuable information
regarding the natural history of rare chromosomal imbalances.