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《European journal of medical genetics》2019,62(6):103531
Interstitial deletions involving chromosome region 6p21.31p21.2 have not been previously reported in the literature. Here, we present a 2 year old girl with global developmental delay, severe speech delay, dysmorphic features, laryngeal cleft, anterior descending aorta that occluded the left main bronchus and a novel de novo deletion of chromosome 6: arr[hg19] 6p21.31p21.2 (35462950–36725083)x1. The deletion, which was diagnosed by array comparative genomic hybridization and further confirmed with fluorescence in situ hybridization, was approximately 1.26 Mb and contained 28 RefSeq genes. The deleted region includes 24 protein coding genes and 4 non-coding genes. This represents a novel microdeletion that has not been previously reported in the literature. 相似文献
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J.B.G.M. Verheij S.A. de Munnik T. Dijkhuizen N. de Leeuw D. Olde Weghuis G.J. van den Hoek R.S. Rijlaarsdam Y.E.M. Thomasse F.G. Dikkers C.L.M. Marcelis C.M.A. van Ravenswaaij-Arts 《European journal of medical genetics》2009,52(5):353-357
Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before.The deletions were overlapping by 8.35 Mb (8q24.21q24.23). The clinical features shared by our patients were coloboma, VSD, digital abnormalities, congenital dislocation of a hip, feeding problems, psychomotor delay and convulsions.The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only. However, she is too young to present features of this syndrome, apart from dysmorphic features like a bulbous nose and notched alae nasi.Several genes are present in the commonly deleted region, including genes with unknown function, and genes for which haploinsufficiency is known to have no phenotypic effect in mice (Wnt1). A gene that might play a role in the convulsions of our patients is KCNQ3. 相似文献
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Caselli R Mencarelli MA Papa FT Uliana V Schiavone S Strambi M Pescucci C Ariani F Rossi V Longo I Meloni I Renieri A Mari F 《European journal of medical genetics》2007,50(4):315-321
We report a female patient with neurodevelopmental delay and peculiar facial features. She has postnatal growth failure and an atrial septal defect. Patent duct arteriosis and tricuspidal insufficiency were also noted at birth. Characteristic facial features include medial flare eyebrows, dysmorphic helix of the right ear, cupshaped left ear, anteverted nares, long and smooth philtrum, thin upper lip, high vaulted palate. Array-CGH analysis demonstrated the presence of a 2.6 Mb deletion in 6q24.3-25.1. The phenotypic features of this case are very similar to those previously reported in a patient with a 7Mb overlapping deletion, pointing to a specific new syndrome. Twenty-two genes are present in the common critical deleted region. Among them, there is the PPP1R14C gene that encodes for KEPI, a PKC-potentiated inhibitory protein for type-1 Ser/Thr protein phosphatase. Its selective distribution in brain and heart well correlates with developmental delay and cardiac anomalies observed in the patient. 相似文献
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A maternally inherited 16p13.11‐p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay,disruptive and obsessive behaviors and minor dysmorphic features 下载免费PDF全文
Ines Quintela Francisco Barros Ramon Lago‐Leston Manuel Castro‐Gago Angel Carracedo Jesus Eiris 《American journal of medical genetics. Part A》2015,167(6):1315-1322