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.
Highlights
Individuals with partial duplication of chromosome 3q typically display characteristic facial features including low frontal hairline, bushy eyebrows, synophrys, hypertelorism, long eyelashes, downslanting palpebral fissures, epicanthal folds, wide nasal bridge with bulbous nasal tip, prominent philtrum, down-turned corners of the mouth and low-set, malformed ears
We present a new case of a 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
This report represents a new case of pure 3q duplication due to a de novo interstitial duplication event detected in a 3-month-old female with multiple congenital anomalies, tracheomalacia and vascular compression from a double aortic arch
Summary
Individuals with partial duplication of chromosome 3q typically display characteristic facial features including low frontal hairline, bushy eyebrows, synophrys, hypertelorism, long eyelashes, downslanting palpebral fissures, epicanthal folds, wide nasal bridge with bulbous nasal tip, prominent philtrum, down-turned corners of the mouth and low-set, malformed ears. Less common reported features include ocular anomalies, neuroimaging findings, hip dysplasia, central sleep apnea and conductive hearing loss [2]. Pure duplications of 3q are very rare; we are aware of only 12 such cases that have been reported previously [2, 6]. We present a new case of a 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
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