![]() Sequence analysis of ANKRD11 is performed first. Persons with the distinctive features described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom a specific diagnosis has been elusive are more likely to be diagnosed using genomic testing (see Option 2). Gene-targeted testing requires the clinician to determine which gene(s) are likely involved, whereas genomic testing may not. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Note: Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and " likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. However, some individuals with clinical findings highly suggestive of KBG syndrome do not have a detectable pathogenic ANKRD11 variant or 16q24.3 deletion. The diagnosis of KBG syndrome is established in a proband by detection of either a heterozygous pathogenic (or likely pathogenic) variant in ANKRD11 or deletion of 16q24.3 that includes ANKRD11 (see Table 1). ![]() For example, involvement of a cardiologist and maternal fetal medicine physician for a pregnant woman with a history of a congenital heart defect control of seizures during pregnancy for those with a seizure disorder. Pregnancy management: Pregnancy management should be tailored to the specific features in the affected woman. Surveillance: Routine monitoring of hearing, vision, growth, pubertal status (in prepubertal individuals), and cognitive development.Īgents/circumstances to avoid: Ototoxic drugs should be avoided because of the risk for hearing loss. Treatment of manifestations: Surgical corrections and/or speech therapy for palatal anomalies nasogastric tube feeding in infants pharmacologic treatment for gastroesophageal reflux disease pressure-equalizing tubes and/or tonsillectomy/adenoidectomy for chronic otitis media consideration of amplification for hearing loss consideration of growth hormone therapy for short stature and medication to arrest puberty for premature pubertal development standard treatment of seizure disorder, undescended testis in males, congenital heart defects, strabismus / refractive errors, and developmental disabilities. Version 2 beta 2 is available for Microsoft Windows and a command-line version of KGB Archiver 1.0 is available for Unix-like operating systems. KGB Archiver is free and open-source, released under the terms of the GNU General Public License. As a consequence, the program uses memory and CPU intensively. However, at higher compression levels, the time required to compress a file increases significantly. ![]() It has ten levels of compression, from very weak to maximum. ![]() Written in Visual C++ by Tomasz Pawlak, KGB Archiver is designed to achieve a very high compression ratio. ![]() KGB Archiver is a discontinued file archiver and data compression utility that employs the PAQ6 compression algorithm. English, Arabic, Czech, German, Greek, Japanese, Polish, Portuguese, Serbian, Spanish, and Ukrainian ![]()
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