A malformed girl with a de novo proximal 6q deletion.
An additional case of interstitial deletion of chromosome 6, the first with breakpoints in q12 and q14, is reported. The female infant was the malformed first child of young, healthy parents. A review of proximal 6q deletions is made.
Lonardo
F
F
Centro di Genetica Medica, Ospedale Civile, Avellino, Italy.
Colantuoni
M
M
Festa
B
B
Gentile
G
G
Guerritore
G
G
Perone
L
L
Santulli
B
B
Ventruto
V
V
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007223:Infant