Chromosomal rearrangements in three generations of a Jamaican family

Abstract

Chromosomal rearrangements are described in a three-generation family whose members were all normal but for the propositus, who had phenotypic abnormalities suggestive of Patau’s syndrome. The rearrangements appeared to involve chromosomes of the D and E groups in four members of the family, and in the mother and the abnormal propositus, who had identical karyotypes, there was also a questionable abnormality of a B chromosome. Autoradiographic studies indicated that chromosomes 13 and 17 may be involved in the translocation and that the B-group abnormality involved possibly a chromosome No. 5. Genetic-marker studies were noncontributory. The explanation favored for the rearrangement was an insertion type of exchange following three breaks in the D and E groups, and hence the abnormal propositus could be explained as an example of recombinational imbalance.

Using topic modeling via non-negative matrix factorization to identify relationships between genetic variants and disease phenotypes: A case study of Lipoprotein(a) (LPA)

“…Following established protocols used in past studies [32], we grouped each individual’s International Classification of Disease, 9 th edition (ICD-9-CM) codes into disease “phecodes” [33]. There were 1853 phecodes extracted from 12,759 individuals.…”

Using Topic Modeling via Non-negative Matrix Factorization to Identify Relationships between Genetic Variants and Disease Phenotypes: A Case Study of Lipoprotein(a) (LPA)

“…Following established protocols used in past studies [30], we grouped each individual’s ICD-9-CM (International Classification of Disease, 9 th edition) codes into disease phecodes. There were 1853 phecodes present in the 12,759 individuals.…”