PMID- 17506105
OWN - NLM
STAT- MEDLINE
DCOM- 20080124
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 12
DP  - 2007 Jun 15
TI  - Report of a child with a complete de novo 17p duplication localized to the 
      terminal region of the long arm of chromosome 17.
PG  - 1366-70
AB  - We report the second case of a child with trisomy of the entire short arm of 
      chromosome 17 secondary to a de novo duplication. Trisomy 17p in this patient 
      resulted from a duplication, localized to the distal region of the long arm of 
      the same chromosome, an abnormality not previously described. This cytogenetic 
      abnormality was confirmed using whole chromosome paint, subtelomeric and 
      Smith-Magenis probes by fluorescence in situ hybridization (FISH) analysis. The 
      child presented with phenotypic features previously described in trisomy 17p, 
      including some specific facial dysmorphia, microcephaly, growth retardation, 
      hypotonia, short webbed neck, congenital heart defect, minor abnormalities of the 
      hands, agenesis of the corpus callosum and abnormalities of the iris. Iris 
      alterations and defects involving the left side of heart and the aorta also may 
      represent truly clinical hallmarks of this cytogenetic abnormality. In 
      conclusion, this cytogenetic anomaly seems to represent a severe malformation 
      entity with a poor prognosis and a recognizable clinical pattern that justifies 
      the use of the term "17p trisomy syndrome" suggested previously by other authors.
FAU - Paskulin, Giorgio A
AU  - Paskulin GA
AD  - Clinical Genetics Discipline, Fundacao Faculdade Federal de Ciencias Medicas de 
      Porto Alegre, Porto Alegre, Brazil. paskulin@fffcmpa.edu.br
FAU - Zen, Paulo R G
AU  - Zen PR
FAU - Rosa, Rafael F M
AU  - Rosa RF
FAU - Manique, Rosana C
AU  - Manique RC
FAU - Cotter, Philip D
AU  - Cotter PD
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Cytogenetic Analysis
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - Infant
MH  - *Phenotype
MH  - Trisomy/*genetics
EDAT- 2007/05/17 09:00
MHDA- 2008/01/25 09:00
CRDT- 2007/05/17 09:00
PHST- 2007/05/17 09:00 [pubmed]
PHST- 2008/01/25 09:00 [medline]
PHST- 2007/05/17 09:00 [entrez]
AID - 10.1002/ajmg.a.31785 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Jun 15;143A(12):1366-70. doi: 10.1002/ajmg.a.31785.