Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter).
Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis defined the breakpoints respectively at bands 4q33-->q35 proximal to the telomere, and 4pter and 4q35.2 qter. Moreover in both cases rearranged chromosomes maintained telomeric sequences. The first patient showed some clinical features of deletion 4q and a pointed 5th finger, a characteristic finding in deletion 4q31-->qter. The second patient had mild dysmorphism associated with growth retardation.
Calabrese
G
G
Istituto di Biologia e Genetica, Universita di Chieti, Italy.
Giannotti
A
A
Mingarelli
R
R
Di Gilio
M C
MC
Piemontese
M R
MR
Palka
G
G
D002872:Chromosome Deletion; D002873:Chromosome Fragility; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes