Rev Fac Cien Med Univ Nac Cordoba
June 2022
Introduction: Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. Purpose.
Objetive: To show copy number variants and regions of homozygosity in neonates with malformative syndrome or one congenital anomaly major associated to facial dysmorphia or hypotonia.
Medwave
September 2020
Introduction: Actinomycosis is a rare infectious disease caused by Gram-positive bacteria. The most common species is Actinomyces israelii. Among its forms of presentation, the thoracic is the least frequent.
View Article and Find Full Text PDFCopy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum disorder, seizures, and choanal atresia. The entity is caused probably by haploinsufficiency for and We report a newborn male with hypotonia, facial dysmorphism, heart malformation, and without clinical diagnosis; nevertheless, the use of appropriate genetic test, such us the chromosomal microarray analysis allowed identification of a copy number variant in loss of 5.5 Mb at chromosome 3 (p13-p14.
View Article and Find Full Text PDF