PMID- 15083705
OWN - NLM
STAT- MEDLINE
DCOM- 20040720
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 15
IP  - 1
DP  - 2004
TI  - Duplication of the terminal band of the long arm of chromosome 7: a new case.
PG  - 87-90
AB  - We report on a new case of de novo duplication of the terminal band of chromosome 
      7, 46, XX dup(7) (q36 > qter), defined by fluorescence in situ hybridization 
      (FISH), which cause a recognizable phenotype consisting of macrocephaly, 
      prominent frontal bossing, slight developmental delay.
FAU - Boccone, L
AU  - Boccone L
AD  - Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, 
      Italy.
FAU - Gasperini, D
AU  - Gasperini D
FAU - Pilloni, G
AU  - Pilloni G
FAU - Cao, A
AU  - Cao A
FAU - Nucaro, A
AU  - Nucaro A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - Child
MH  - Chromosome Banding/*methods
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Chromosomes, Human, X/genetics
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - Phenotype
MH  - Skull/abnormalities
EDAT- 2004/04/16 05:00
MHDA- 2004/07/21 05:00
CRDT- 2004/04/16 05:00
PHST- 2004/04/16 05:00 [pubmed]
PHST- 2004/07/21 05:00 [medline]
PHST- 2004/04/16 05:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2004;15(1):87-90.