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Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 → q35 and ring r (4) (pterq35.2‐qter)
Author(s) -
Calabrese G.,
Giannotti A.,
Mingarelli R.,
Gilio M. C. Di,
Piemontese M. R.,
Palka G.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02467.x
Subject(s) - telomere , chromosome , genetics , fish <actinopterygii> , breakpoint , karyotype , biology , dna , gene , fishery
Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis denned 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.