A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.
We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000026:Abortion, Habitual / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003582:Cytogenetics; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009154:Mutation; D011247:Pregnancy