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Method: A 29-year-old woman underwent amniocentesis at 18 weeks of gestation as a result of abnormal ultrasound findings including bilateral choroid plexus cysts, atrioventricular septal defects, rocker-bottom feet, and potential hydrocephalus. Spectral karyotyping was then carried out, and the source of the additional material locating at chromosome 1p was found to be from chromosome 21. A 21q subtelomeric probe, and conventional fluorescence in situ hybridization testing were both used and reported the spectral karyotyping results by using a chromosome 21 specific painting probe, a locus specific probe localized within bands 21q22. 13. 13u2013q22. 2 and a 21q subtelomeric probe, with an optical karyotyping instrument. The 1p36 deletion syndrome's medical characteristics have also been investigated, and it may have a role in certain fetus characteristics. Our case appears to have been the first to have partial monosomy 1p and partial trisomy 21q caused by de novo translocation being diagnosed prenatally.
Source link: https://doi.org/10.1159/000077965
Deletion 1p36 syndrome is a recently diagnosed disorder that is thought to be the most common subtelomeric microdeletion disorder. The condition is responsible for 0. 5 percent to 1. 2% of idiopathic mental retardation, according to pediatricians caring for such patients. Our aim was to delineate the natural history of deletion 1p36 and provide complete and accurate information with which to answer families' concerns in the clinical setting. We screened 60 patients with the 1p36 deletion syndrome. Seventy-one percent had heart abnormalities, including 23% with a u201cnoncompaction cardiomyopathy, and 64% had visual inattentiveness. All patients had developmental delay with poor/absent speech; 95% had hypotonia; 95% had hypotonia. These 60 patients with deletion 1p36 are the largest clinical series to date, and they provide new insight on several aspects of this disorder, which is characterized by neurodevelopmental abnormalities and a recognizable pattern of malformation.
Source link: https://doi.org/10.1542/peds.2007-0929
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