Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient.
Rodríguez
L
L
Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain. laura@isciii.es
Martínez-Fernández
M L
ML
Aceña
M I
MI
López Mendoza
S
S
Martín Fumero
L
L
Rodríguez de Alba
M
M
Gallego-Merlo
J
J
Martínez-Frías
M L
ML
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