Unusual four-generation chromosome-22 rearrangement: when "normality" masks abnormality.
Nevado
Julián
J
de Torres
M Luisa
ML
Fernández
Luis
L
Mori
M Angeles
MA
Villa
Amelia
A
Palomares
María
M
García-Santiago
Fe
F
Mansilla
Elena
E
García-Miñaur
Sixto
S
Delicado
Alicia
A
Lapunzina
Pablo
P
D000328:Adult; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005190:Family; D005191:Family Characteristics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis