X pentasomy: A case and review

Abstract

A 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed.

Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders

“…Clinical manifestations in our patient are consistent with those in previously reported penta-X syndrome patients [1,12]. The anomalies found are similar to those of Down syndrome and the 49,XXXXY constitution, respectively, resulting in an occasional diagnostic problem [12,19].…”

On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome

“…More than 70 per cent of these patients have been studied in the prepubertal period. The uterus was occasionally reported as 'very small' (Sergovich et al, 1971;Toussi et al, 1980), and ovarian dysfunction was established on the basis of either high levels of pituitary gonadotropins (Sergovich et al, 1971;Archidiacono et al, 1979) or ovarian agenesis (Toussi et al, 1980;Farge et al, 1985). The absence of oocytes in this 20-week fetus supports the existence of an underlying gonadal dysfunction in penta-X females.…”

Penta X syndrome: A case report with review of the literature

“…Females with pentasomy X usually have characteristic clinical manifestations, and the phenotype due to this chromosome abnormality is thus referred to as "penta X syndrome." Since the first report by Kesaree and Woolley E19631, to our knowledge, a total of 22 patients has been reported [Brody et al, 1967;Zajaczkowska et al, 1970;Sergovich et al, 1971;Yamada and Neriishi, 1971;Larget-Piet et al, 1972;Berger et al, 1973;Genoud et al, 1974;Giovannucci-Uzielli et al, 1975;Kaufman et al, 1975;Mulcahy and Stevens, 1975;Tumba et al, 1977;Moedjono et al, 1978;Archidiacono et al, 1979;Carpenter et al, 1979;Dryer et al, 1979;Monheit et al, 1980;Toussi et al, 1980;Funderburk et al, 1981;Okamoto et al, 1981;Zhang et al, 1982;Farge et al, 19851. Penta X syndrome is of interest not only clinically but also from a biological point of view, especially regarding the mechanism of formation of the pentasomy X.…”