Abstract
Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Family history was noncontributory. Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1. FISH analysis confirmed that the duplication was inverted. Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding. Many of our patient's features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia. The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome. This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.
Highlights
The medical literature contains numerous reports of patients with either duplications or deletions within chromosome 3p21-p26
Since many cases were caused by inherited translocations or other rearrangements that resulted in partial monosomy of a second chromosome, it was difficult to distinguish the clinical findings due to loss or gain of 3p21-p26 from those due to a chromosome imbalance elsewhere in the genome
A report in 1978 first summarized the clinical features seen in eight cases of partial trisomy 3p, highlighting distinctive features of microcephaly, frontal bossing, squareshaped face, hypertelorism/telecanthus, prominent cheeks, temporal indentation, large mouth with micrognathia/ retrognathia, penile hypoplasia, congenital heart defects, and mental delay [1]
Summary
The medical literature contains numerous reports of patients with either duplications or deletions within chromosome 3p21-p26. A report in 1978 first summarized the clinical features seen in eight cases of partial trisomy 3p, highlighting distinctive features of microcephaly, frontal bossing, squareshaped face, hypertelorism/telecanthus, prominent cheeks, temporal indentation, large mouth with micrognathia/ retrognathia, penile hypoplasia, congenital heart defects, and mental delay [1]. Additional case reports described patients with smaller duplications that notably lacked dysmorphism or major congenital anomalies [3,4,5]. A syndromic constellation of features emerged, which included growth restriction, microcephaly with trigonocephaly, narrow forehead with prominent metopic suture, ptosis, inner epicanthic folds, upslanting palpebral fissures, synophrys, small nose with anteverted nostrils, low set/poorly shaped ears (possibly with preauricular pits/fistulas), postaxial polydactyly, congenital heart defects, renal malformations, gastric malformations, hypotonia, and mental and psychomotor delays [7]. Our patient has clinical findings consistent with both partial monosomy and partial trisomy of 3p, as well as features that are not commonly reported in either condition
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