Del(4)(pter-->q33:) case report and review of the literature.
We report a case on a female newborn child with a deletion of the 4q33qter region. The patient showed facial dysmorphisms, cleft palate and congenital cardiac defect. In order to contribute to a better definition of the 4q33qter deletion syndrome we have compared the clinical findings of our patient with those in nine reported cases. The characteristic symptoms of these patients seem to be: mental retardation, upper slanting of the palpebral fissures, depressed nasal bridge, low set/dysplastic ears, cleft palate, micrognathia, dysmorphic hands and feet.
Grammatico
P
P
Cattedra di Genetica Medica, Università, La Sapienza, Roma.
Spaccini
L
L
Di Rosa
C
C
Cupilari
F
F
Del Porto
G
G
D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping