TITLE:
De novo duplication 3q in an infant with a vascular ring and features overlapping Cornelia de Lange phenotype
AUTHORS:
Daniela Iacoboni, Nermin Kady, M. Myrtha Gregoire-Bottex, Michael Netzloff, Sainan Wei
KEYWORDS:
Cornelia de Lange; 3q Duplication; Trisomy 3q; Pure 3q Duplication
JOURNAL NAME:
Case Reports in Clinical Medicine,
Vol.2 No.1,
March
25,
2013
ABSTRACT: Partial duplication of
chromosome 3q is a recognizable syndrome with characteristic facial features,
microcephaly, digital anomalies, genitourinary and cardiac defects as well as
growth retardation and developmental delays.
While there is clinical overlap with the unrelated Cornelia de Lange syndrome
(CDLS), there are distinguishing features and
molecular etiologies. Most cases of 3q duplication appear to be the result
of an unbalanced translocation or inversion and therefore accompanied by additional cytogenetic anomalies. Consequently,
pure duplications of 3q are very rare; we are aware of only 12 such cases that have
been reported previously. Here, we present a new case of pure, partial 3q duplication in a 3-month-old female who displayed a number of clinical signs consistent
with previously reported phenotypes and the additional novel finding of a vascular
ring.