49,xxxxy is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. we reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

Short stature is one of the major disabilities for people with ovarian dysgenesis and Turner's syndrome. There have been contradictory reports of the plasma growth hormone level in children with these conditions in whom this estimation has been made (Fraccaro, Gemzell, and Lindsten, 1960; M. Davidson, 1967, personal communication). Therefore, in the present studies growth hormone secretion has ...

49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

Eight patients with XXXXY sex chromosomes are on record (Fraccaro, Kaijser, and Lindsten, I960; Miller, Breg, Schmickel, and Tretter, I96I; Fraser, Boyd, Lennox, and Dennison, I96I; Fraccaro, Klinger, and Schutt, I962; Barr, Carr, Pozsonyi, Wilson, Dunn, Jacobson, and Miller, I962; Pfeiffer, I962; Schade, Sch6ller, and T6berg, I963). In addition two similar patients with a mosaic pattern have b...

2 Emberger J M, Rodiere M, Astruc J, Brunel D. Syndrome de Prader Willi et translocation 15/15. Ann Genet (Paris) 1977; 20: 297-300. 3 Fraccaro M, Zuffardi 0, Buhler E M, Jurik L P. 15/15 translocation in Prader Willi syndrome. J Med Genet 1977; 14: 275-8. 4 Smith A, Noel M. A girl with the Prader Willi syndrome and Robertsonian translocation 45,XX,t(14;15) (p1 q1 1) which was present in 3 norm...

The clinical features of 'Klinefelter' syndrome were first described by Klinefelter, Reifenstein, and Albright (1942). The true Klinefelter syndrome is chromatin-positive and is due to X chromosome polysomy, most frequently 47,XXY (Jacobs and Strong, 1959), but karyotypes with one or more X's or Y's additional to the XXY formula, such as 48,XXXY, 49,XXXXY, and mosaicisms of XXY with other stem-...

In man there are three well-known syndromes that are associated with an extra autosome. These are Down's syndrome (mongolism) with 21-trisomy (Lejeune, Gautier, and Turpin, 1959; Jacobs et al., 1959; Book, Fraccaro, and Lindsten, 1959), 13-15 trisomy (Patau et al., 1960), and 17-18 trisomy (Edwards et al., 1960; Smith et al., 1960). There have been five previously reported patients with a small...

Since the first report by Lejeune, Gautier, and Turpin in 1959 of the findings of trisomy 2I and a chromosome number of 47 in Down's syndrome (mongolism), several different chromosomal patterns have been described in patients with this disorder. One of these is chromosome mosaicism. In such cases, the patient may lack some of the features characteristic of the syndrome-and indeed some subjects ...