PMID- 14699617
OWN - NLM
STAT- MEDLINE
DCOM- 20040728
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 124A
IP  - 2
DP  - 2004 Jan 15
TI  - A girl with duplication 17p10-p12 associated with a dicentric chromosome.
PG  - 173-8
AB  - 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 Smith-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.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Shaw, Christine J
AU  - Shaw CJ
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas, USA.
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Christodoulou, John
AU  - Christodoulou J
FAU - Smith, Ellie
AU  - Smith E
FAU - Jones, Kristi
AU  - Jones K
FAU - Lupski, James R
AU  - Lupski JR
LA  - eng
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
GR  - R01 NS27042/NS/NINDS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Centromere/*genetics
MH  - Charcot-Marie-Tooth Disease/diagnosis/*genetics
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Female
MH  - Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Microsatellite Repeats
MH  - Myelin Proteins/*genetics
EDAT- 2003/12/31 05:00
MHDA- 2004/07/29 05:00
CRDT- 2003/12/31 05:00
PHST- 2003/12/31 05:00 [pubmed]
PHST- 2004/07/29 05:00 [medline]
PHST- 2003/12/31 05:00 [entrez]
AID - 10.1002/ajmg.a.20355 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Jan 15;124A(2):173-8. doi: 10.1002/ajmg.a.20355.