PMID- 21971480
OWN - NLM
STAT- MEDLINE
DCOM- 20120605
LR  - 20120220
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 55
IP  - 1
DP  - 2012 Jan
TI  - A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.
PG  - 67-70
LID - 10.1016/j.ejmg.2011.09.001 [doi]
AB  - We report a new case of 8q interstitial duplication in a patient with dysmorphic 
      features, umbilical hernia, cryptorchidism, short stature, congenital heart 
      defect and mild mental retardation (MR). Chromosome analysis with high resolution 
      QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of 
      the distal long arm of chromosome 8 (q22 --> qter). This chromosomal aberration was 
      further characterized using fluorescence in situ hybridization (FISH) analyses 
      with multiple DNA probes and array-CGH (Comparative Genomic Hybridization) 
      experiment which demonstrated a de novo direct duplication (8)(q22.2-q24.3). We 
      have compared this case with other partially trisomic 8q patients reported in 
      literature and highlighted the common clinical features in 8q22-8q24 duplication 
      syndrome.
CI  - Published by Elsevier Masson SAS.
FAU - Concolino, D
AU  - Concolino D
AD  - Department of Pediatrics, University Magna Graecia, Catanzaro, Italy. 
      dconcolino@unicz.it
FAU - Iembo, M A
AU  - Iembo MA
FAU - Moricca, M T
AU  - Moricca MT
FAU - Rapsomaniki, M
AU  - Rapsomaniki M
FAU - Marotta, R
AU  - Marotta R
FAU - Galesi, O
AU  - Galesi O
FAU - Fichera, M
AU  - Fichera M
FAU - Romano, C
AU  - Romano C
FAU - Strisciuglio, P
AU  - Strisciuglio P
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
DEP - 20110925
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (DNA Probes)
RN  - Chromosome 8, trisomy 8q
SB  - IM
MH  - Abnormal Karyotype
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Duplication
MH  - Chromosome Painting
MH  - Chromosomes, Human, Pair 8/genetics
MH  - DNA Probes
MH  - Humans
MH  - Infant
MH  - Male
MH  - *Phenotype
MH  - Trisomy/*genetics
EDAT- 2011/10/06 06:00
MHDA- 2012/06/06 06:00
CRDT- 2011/10/06 06:00
PHST- 2011/02/01 00:00 [received]
PHST- 2011/09/10 00:00 [accepted]
PHST- 2011/10/06 06:00 [entrez]
PHST- 2011/10/06 06:00 [pubmed]
PHST- 2012/06/06 06:00 [medline]
AID - S1769-7212(11)00112-1 [pii]
AID - 10.1016/j.ejmg.2011.09.001 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2012 Jan;55(1):67-70. doi: 10.1016/j.ejmg.2011.09.001. Epub 2011 
      Sep 25.