PMID- 11696311
OWN - NLM
STAT- MEDLINE
DCOM- 20020507
LR  - 20111117
IS  - 0302-4342 (Print)
IS  - 0302-4342 (Linking)
VI  - 55
IP  - 5
DP  - 2001 Nov
TI  - [Inverted duplication of the short arm of chromosome 8].
PG  - 458-62
AB  - We report two cases of agenesis of corpus callosum in which high resolution 
      G-band cytogenetic study revealed inverted duplication of the short arm of 
      chromosome 8. The application of hybridization techniques with fluorescence in 
      situ hybridization (FISH) confirmed chromosomal alteration in both cases. The 
      definitive karyotype was 46, XY or XX inv dup del (8) 
      (qter-p23.1::p23.1-p11.2).ish (WCP 8 ) (tel 8p-).
FAU - Rodriguez Martinez, L
AU  - Rodriguez Martinez L
AD  - Estudio Colaborativo Espanol de Malformaciones Congenitas (ECEMC), Facultad de 
      Medicina, Universidad Complutense, Madrid. luisama@eucmos.sim.ucm.es
FAU - Jimenez Munoz-Delgado, N
AU  - Jimenez Munoz-Delgado N
FAU - Nieto, C
AU  - Nieto C
FAU - Martinez Carrascal, A
AU  - Martinez Carrascal A
FAU - Lopez Grondona, F
AU  - Lopez Grondona F
FAU - Martinez Frias, M L
AU  - Martinez Frias ML
LA  - spa
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
TT  - Duplicacion invertida del brazo corto del cromosoma 8.
PL  - Spain
TA  - An Esp Pediatr
JT  - Anales espanoles de pediatria
JID - 0420463
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Agenesis of Corpus Callosum
MH  - *Chromosome Inversion
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
EDAT- 2001/11/07 10:00
MHDA- 2002/05/08 10:01
CRDT- 2001/11/07 10:00
PHST- 2001/11/07 10:00 [pubmed]
PHST- 2002/05/08 10:01 [medline]
PHST- 2001/11/07 10:00 [entrez]
AID - 13020273 [pii]
PST - ppublish
SO  - An Esp Pediatr. 2001 Nov;55(5):458-62.