Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient.
Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain. laura@isciii.es
L
L
Rodríguez
M L
ML
Martínez-Fernández
M I
MI
Aceña
S
S
López Mendoza
L
L
Martín Fumero
M
M
Rodríguez de Alba
J
J
Gallego-Merlo
M L
ML
Martínez-Frías
D000782:Aneuploidy; D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D013577:Syndrome