Anomalies in the Y Chromosome

A Long Y Chromosome in Male Twin-brothers and their Father

“…Recent literature indicates several cases of abnormalities of Y chromosome (for detail, refer to . Bender and Gooch (1961) reported an unusually long Y chromosome in a highly intelligent man, and a similar feature of Y chromosome was reported in Marf an's syndrome by Kallen and Levan (1962), and in oligospermia or azoospermia by Wijck et al (1962). The extremely long Y chromosome was reported by in the father and paternal grandfather of a girl with Down's syndrome, and again in a patient with multiple malformations and his father.…”

Large human Y chromosome with two fluorescent bands

“…This discovery may be applied in diagnosing structural abnormalities of the Y chromosome and has already been exploited in the study of exceptionally large Y chromosomes (Borgaonkar & Hollander, 1970, Morillo-Cucci & German, 1970. This feature is rather common among normal subjects (Court Brown et al 1966) and was described also in individuals with oligospermia (van Wijck et al 1962, Kjessler, 1966 and in some syndromes. However, it has not yet been definitely associated with any particular disease state.…”

A family with a large Y chromosome.

“…Though these examples might suggest some kind of relation between large Y chromosome and non-disjunction, yet evidence for a direct relation between the two conditions is hard to obtain. t Bender and Gooch, 1961;Jacobs and Harnden, 1961;Kdll6n and Levan, 1962;Van Wijck, Tijdink, and Stolte, 1962;Bishop et al, 1962;Gropp et al, 1963;Tonomura and Ono, 1963;Dekaban et al, 1963;Tjio, 1964;Hungerford, 1964;Pfeiffer, Laermann, and Heidtmann, 1967. Summary All four males in a family have a large Y chromosome, equal in length to the 13-15 group, and a phenotype showing: (a) behavioural disorder, (b) skeletal overgrowth, (c) straight carrying angle at elbow, (d) genital overgrowth, and (e) abnormal serum protein pattern.…”