Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome?. Issue 6 (25th April 2017)

• Record Type: Journal Article
• Authors: Yu, Andrea C.; Zambrano, Regina M.; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan‐Jordan, Jean; Armour, Christine M.
• Is Part Of: American journal of medical genetics. Volume 173:Issue 6(2017)
• Page Start: 1593
• Page End: 1600
• Publication Date: 2017-04-25
• Subjects: 7p22.3p22.2 -- AMZ1 -- BRAT1 -- CHST12 -- copy number variant -- developmental delay -- EIP3B -- GNA12 -- LFNG -- TTYH3; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38241
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows. Additional variable features amongst the patients included microcephaly, metopic ridging or craniosynostosis, cleft palate, cardiac defects, and mild hypotonia. Although the patients' deletions varied in size, there was a 0.47 Mb region of overlap which contained 7 OMIM genes: EIP3B, CHST12, LFNG, BRAT1, TTYH3, AMZ1, and GNA12 . We propose that monosomy of this region represents a novel microdeletion syndrome. We recommend that individuals with 7p22.3p22.2 deletions should receive a developmental assessment and a thorough cardiac exam, with consideration of an echocardiogram, as part of their initial evaluation.