Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.
It is generally accepted that 2.5% of the patients with unexplained mental retardation and dysmorphic features have a chromosome alteration affecting the subtelomeric regions. The frequency of such alterations whether in the general population or in newborns with congenital defects, however, remains unknown. Here, we present an analysis of the subtelomeric regions in a consecutive series of 71 newborn babies with congenital defects, who displayed a normal high resolution G-band karyotype (550-850 bands). After excluding the alterations that could be considered to be polymorphisms, a total of seven subtelomeric anomalies were observed with a frequency of 9.86% (3.96-20.31). We conclude that fluorescence in-situ hybridization screening for subtelomeric alterations is relevant for infants with congenital defects detectable at birth, particularly in those newborn babies with congenital defects and a normal high resolution G-band karyotype.
Spanish Collaborative Study of Congenital Malformations (ECEMC), Research Center of Congenital Anomalies (CIAC), Carlos III Health Institute, Ministry of Health and Consumer Affairs Neurology Service, Hospital Marqués de Valdecilla, Cantabria Pediatric Service, Hospital Universitario Central de Asturias, Oviedo Neonatology Service, Hospital Severo Ochoa Pediatric Service, Hospital General del Insalud de Guadalajara, Guadalajara Pediatric Service, Hospital del Rio Hortega, Valladolid Pediatric Service, Hospital de la Plana, Vila-Real, Castellón, Spain Pharmacology Department, Medicine Faculty, Complutense University, Madrid.
Laura
L
Rodríguez
María Luisa
ML
Martínez-Fernández
Elena
E
Mansilla
Jacobo
J
Mendioroz
Rosa María
RM
Arteaga
Joaquín Fernández
JF
Toral
Nieves Martínez
NM
Guardia
Angel
A
García
Fernando
F
Centeno
Jorge
J
Pantoja
Carmen
C
Jovani
María Luisa
ML
Martínez-Frías
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D016615:Telomere