Radioulnar synostosis, behavioral disturbance, and XYY chromosomes

49, XYYYY. A case report

“…Phenotypic males with little or no detectable physical or mental supernumerary Y chromosomes are not abnormality. Some may manifest antisocial common, the most common being a 47, behaviour (Cleveland et al 1969). Only a Our patient presents with some unusual features: brachydactyly with clinodactyly, limitation of supination at the left elbow, inguinal hernia, urinary tract malformation and abnormal skeletal radiologic findings.…”

Autosomal dominant and sporadic radio‐ulnar synostosis

“…In patients with RUS a high frequency of associated malformations in other organs such as the heart and urinary tract has been reported [Carroll and Louis, 1974]. RUS is seen in a number of aneuploid syndromes, particularly those involving abnormal numbers of X and Y chromosomes [Cleveland et al, 1969;Schinzel, 1984;De Grouchy and Turleau, 1984]. RUS can be seen in several nonaneuploidy syndromes.…”

Dermatoglyphic studies of the 47, XYY male

“…It has been reported that, in 47,XYY individuals, the total finger ridge count is reduced , Cleveland et al 1969, Ingall et al 1971, Penrose 1966 along with the a-b ridge width (Penrose 1967), and that the a-b ridge count is increased (Penrose 1967). Yet, the overall dermal patterns appear to be nonspecific (Cleveland et al 1969, Tsuboi & disagree with the reports of thc reduced total finger ridge count and a-b ridge width, and with the reports of the increased a-b ridge count.…”

“…The 47,XYY individual does not show any consistent physical features or characteristic malformations (Kosenow & Pfeiffer 1966), except usually having an adult height greater than that of his parents (Borgaonkar et al 1972). An extra Y chromosome has been reported in males with radioulnar synostosis (Cleveland et al 1969, Elbualy 1969, pectus excavatum , hypertelorism (Abrams & Pergament 1971), talipes equinovarus (Court Brown et al 1964), idiopathic osteoarthropathy (Tzoneva-Maneva et al 1966), genital abnormalities (Balodimos et al 1966, Elbualy 1969, Franks et al 1967, Thorburn et al 1968, Vignetti et al 1964, neurological abnormalities (Daly 1969), congenital cyanotic heart disease (Price 1968), acne (Hustinx & van Olphen 1963, Telfer et al 1968), gynecomastia (Balodimos et al 1966, Voorhees et al 1970, mental retardation , Kelly et al 1967, and various other abnormalities (Forssman 1967, Hustinx & van Olphen 1963, Kelly et al 1967, Kosenow & Pfeiffer 1966, Richards & Stewart 1966, Tannoia et al 1970, Telfer et al 1968. Some clinically normal individuals have also been reported (Borgaonkar et al 1968, Sandberg et al 1961, Stenchever & Macintyre 1969, Wilton & Lever 1967.…”