PMID- 17901705
OWN - NLM
STAT- MEDLINE
DCOM- 20071011
LR  - 20220408
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 118
IP  - 1
DP  - 2007
TI  - Duplication dup(1)(q41q44) defined by fluorescence in situ hybridization: 
      delineation of the 'trisomy 1q42-->qter syndrome'.
PG  - 84-6
AB  - We report on a novel case of pure partial tandem duplication 1q42q43 confirmed by 
      fluorescence in situ hybridization (FISH). We compare the manifestations of our 
      patient with similar cases previously reported. We conclude that the most common 
      clinical manifestations of trisomy 1q42qter are prenatal and postnatal growth 
      retardation, relative macrocephaly, triangular face, prominent forehead, broad 
      nasal bridge, abnormal philtrum, micro/retrognathia, cardiac defects and mental 
      retardation. We would like to emphasize the importance of the FISH technique in 
      the identification of the duplicated segment.
CI  - Copyright (c) 2007 S. Karger AG, Basel.
FAU - Cocce, M C
AU  - Cocce MC
AD  - Laboratorio de Citogenetica, Servicio de Genetica, Hospital de Pediatria Prof. 
      Dr. J.P. Garrahan, Buenos Aires, Argentina. marielacocce@yahoo.com.ar
FAU - Villa, O
AU  - Villa O
FAU - Obregon, M G
AU  - Obregon MG
FAU - Salido, M
AU  - Salido M
FAU - Barreiro, C
AU  - Barreiro C
FAU - Sole, F
AU  - Sole F
FAU - Gallego, M S
AU  - Gallego MS
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 1
MH  - Facies
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Male
MH  - *Trisomy
EDAT- 2007/09/29 09:00
MHDA- 2007/10/12 09:00
CRDT- 2007/09/29 09:00
PHST- 2006/11/13 00:00 [received]
PHST- 2007/03/07 00:00 [accepted]
PHST- 2007/09/29 09:00 [pubmed]
PHST- 2007/10/12 09:00 [medline]
PHST- 2007/09/29 09:00 [entrez]
AID - 000106446 [pii]
AID - 10.1159/000106446 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2007;118(1):84-6. doi: 10.1159/000106446.