PMID- 21879160
OWN - NLM
STAT- MEDLINE
DCOM- 20120601
LR  - 20110831
IS  - 0717-6163 (Electronic)
IS  - 0034-9887 (Linking)
VI  - 139
IP  - 3
DP  - 2011 Mar
TI  - [Cytogenetic and molecular profile of genetic diseases in Puerto Montt main 
      hospital].
PG  - 298-305
AB  - BACKGROUND: Chromosome aberrations (CA) are the main etiology of multiple 
      congenital malformations, recurrent abortions and intellectual disability (ID) 
      specifically of moderate and severe degree. They account for 0.3 to 1% of 
      newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic 
      deletions or duplications smaller than 10 MB that are overlooked by conventional 
      cytogenetic studies. AIM: To report the results of cytogenetic and molecular 
      studies performed in patients with a congenital malformation disease or ID with 
      or without dysmorphic features, attended in a regional hospital. PATIENTS AND 
      METHODS: One hundred and eighty patients, 27 with a clinical diagnosis of Down 
      syndrome, derived for the suspicion of a genetic disease, were studied. A 
      karyogram was performed in all of them and in 30 cases additional molecular 
      studies, such as fluorescence in situ hybridization (FISH) or polymerase chain 
      reaction (PCR) were carried out. RESULTS: Among the 153 patients without Down 
      syndrome, 20 (13%) had a genetic abnormality responsible for the altered 
      phenotype. Sixteen had a chromosome aberration (structural and numerical 
      aberrations in 75 and 25% respectively) and four had genetic molecular 
      alterations. Additional studies were performed to confirm or better characterize 
      the chromosome aberration in 13 of the 30 patients in whom these were requested. 
      CONCLUSIONS: Chromosome and specific genetic molecular studies in selected cases 
      help to characterize patients with genetic diseases. The collaboration between 
      academic and health care facilities is crucial.
FAU - Alliende, M Angelica
AU  - Alliende MA
AD  - Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile, 
      Santiago, Chile. malliend@inta.uchile.cl
FAU - Curotto, Bianca
AU  - Curotto B
FAU - Guerra, Patricio
AU  - Guerra P
FAU - Santa Maria, Lorena
AU  - Santa Maria L
FAU - Hermosilla, Reineria
AU  - Hermosilla R
FAU - Orphanopoulos, Doris
AU  - Orphanopoulos D
FAU - Villanueva, Jorge
AU  - Villanueva J
FAU - Wettig, Elizabeth
AU  - Wettig E
FAU - Barraza, Ximena
AU  - Barraza X
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Caracterizacion citogenetico-molecular de enfermedades geneticas en el Hospital 
      Base de Puerto Montt.
DEP - 20110825
PL  - Chile
TA  - Rev Med Chil
JT  - Revista medica de Chile
JID - 0404312
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Chile
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*genetics
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Phenotype
MH  - Polymerase Chain Reaction
EDAT- 2011/09/01 06:00
MHDA- 2012/06/02 06:00
CRDT- 2011/09/01 06:00
PHST- 2011/09/01 06:00 [entrez]
PHST- 2011/09/01 06:00 [pubmed]
PHST- 2012/06/02 06:00 [medline]
AID - S0034-98872011000300003 [pii]
PST - ppublish
SO  - Rev Med Chil. 2011 Mar;139(3):298-305. Epub 2011 Aug 25.