Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 → q35 and ring r (4) (pterq35.2‐qter)
- 1 April 1997
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 51 (4) , 264-267
- https://doi.org/10.1111/j.1399-0004.1997.tb02467.x
Abstract
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.Keywords
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