CMT and Speech

[Guest guest]

(This is a repost of an abstract from this year - mentions the girl, age 7, had

absence of speech. FYI. ~ GG)

1: From Am J Med Genet. 2004 Jan 15;124A(2):173-8.

A girl with duplication 17p10-p12 associated with a dicentric chromosome.

Shaw CJ, Stankiewicz P, Christodoulou J, E, K, Lupski JR.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston,

Texas, USA.

We report a 7 1/2-year-old girl with an approximately 9.5 Mb duplication of

proximal 17p. Her clinical features include moderately severe developmental

delay, absence of speech, talipes, congenital dislocation of the hips, premature

adrenarche, dysmorphic facial features, deep palmar creases, and signs and

symptoms of peripheral neuropathy consistent with Charcot-Marie-Tooth disease

type 1A (CMT1A). Chromosome analysis revealed a partially duplicated 17p with

two centromeres on the derivative chromosome. Fluorescence in situ hybridization

(FISH) analysis demonstrated the tandemly duplicated segment spans 17p10-p12,

including the entire -Magenis syndrome (SMS) critical region and a portion

of the CMT1A critical region. One breakpoint mapped within the centromere and

the second breakpoint mapped within the CMT1A critical region, distal to the

PMP22 gene. Microsatellite polymorphism studies showed that the duplicated

chromosome is of maternal origin. We compare the clinical features of our

patient to those of individuals with partial trisomy of proximal 17p to further

delineate the genotype-phenotype correlation associated with segmental

duplication of this chromosomal region.