Trisomy 22 with long spina bifida occulta
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DOI: 10.1097/md.0000000000012306
Abstract: Introduction: Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies. Patient… read more here.
Keywords: bifida occulta; spina bifida; trisomy; trisomy long ... See more keywords
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies
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DOI: 10.1186/s13039-022-00595-0
Abstract: Background Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, developmental delay/intellectual… read more here.
Keywords: chromosome; trisomy long; arm chromosome; trisomy ... See more keywords