De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies

Abstract

Reports of small proximal 1q duplications are rare. We report a 1 month-old female who was referred to clinic because she was believed to have features suggestive of Turner syndrome. The patient's dysmorphic features included a prominent nose, low-set and crumpled ears, slightly high palate, short neck, high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep palmar creases. Traditional G-band chromosome studies of the patient were interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence in situ hybridization (FISH) probes were utilized. The FISH probes refined the extent of the duplication to involve the region 1(q12q22) indicating the duplicated segment was larger than interpreted by the G-banding studies. This first case of non-mosaic proximal duplication of 1q to be characterized by multiple locus specific FISH probes should allow a more refined delineation of the phenotypic findings and clinical significance associated with this rare chromosomal duplication.

Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids

“…To understand if similar molecular mechanisms underly these morphologically similar (yet histologically different) phenotypes across both lakes, we looked at the intersection set of both comparisons and found many of DE genes, both upregulated and downregulated, that are associated with craniofacial development and involved in human dysmorphologies, many with midline facial defects including those that effect the nose in literature. Among the upregulated genes with related functions were adprhl1 ( De Pater et al 2005 ), angptl2 ( Ehret et al 2015 ), colec12 ( Zlotina et al 2016 ), cx43 ( McLachlan et al 2005 ), foxa2 ( Dines et al 2019 ), foxf1 ( Kucharczyk et al 2014 ), galnt10 ( Starkovich et al 2016 ), got1 ( Tomkins et al 1983 ), lyve1 ( Mitteldorf et al 2018 ), mdfic ( Kosho et al 2008 ), mid1 ( Preiksaitiene et al 2015 ; Hüning et al 2013 ), nudcd1 ( Selenti et al 2015 ), pacs2 ( Holder et al 2012 ), plxnb1 ( Haldeman-Englert et al 2009 ), rac1 ( Thomas et al 2010 ; Reijnders et al 2017 ), rspo1 ( Wieacker and Volleth 2007 ), s100a10 ( Sawyer et al 2007 ), slc25a18 ( Chen et al 2013 ), slc6a6 ( Kariminejad et al 2015 ), ugdh ( Alhamoudi et al 2020 ), vgll4 ( Czeschik et al 2014 ; Barrionuevo et al 2014 ), and vwa1 ( Giannikou et al 2012 ). Among the downregulated genes, we also found the following candidates to have such roles: acsl1 ( Yakut et al 2015 ), adgb ( Alazami et al 2016 ), arl13 ( Brugmann et al 2010 ), ATP6v0c ( Mucha et al 2019 ; Tinker et al 2021 ), bmp2 ( Tan et al 2017 ), cntn3 ( Ţuţulan-Cuniţǎ et al 2012 ), dusp22 ( Hosono et al 2020 ; Martinez-Glez et al 2007 ), fgf22 ( Quigley et al 2004 ), gdpd3 ( Dell’Edera et al ...…”

Mosaic trisomy 1q: The longest surviving case

“…The major findings of trisomy for the 1q25qter region are: severe prenatal or postnatal growth retardation, congenital heart defects, microphthalmia, cleft palate, and preaxial polydactyly. Less extensive proximal trisomy 1q, without additional structural aberrations, has been reported in around seven cases [Sawyer et al, 2007]. Congenital anomalies included: hypertelorism, prominent nose, micrognathia, apparently low‐set malformed ears, short neck, hypoplastic external genitalia, psychomotor retardation, and seem to be more complex with a poorer prognosis in proximal or very large duplications.…”