Polysomy X Masquerading as Down's Syndrome

Dandy-Walker Malformation in a Fetus with Pentasomy X (49, XXXXX) Prenatally Diagnosed by Fluorescence in situ Hybridization Technique

“…A review of the 24 cases reported in the literature failed to reveal a case of Dandy-Walker cyst associ ated with pentasomy X [1, 2], The findings commonly present in females with pentasomy X include growth retardation, hypertelorism, epicanthus, and upward slanted palpebral fis sures [1]. Our patient had some measure ments consistent with IUGR as well as physi cal evidence of hypertelorism, and a pheno type suggestive of Down's syndrome, which has been previously associated with pentaso my X [3]. Other reported findings included cardiovascular defects, skeletal abnormalities and radioulnar synostosis [2].…”

Abnormal lipid and fatty acid compositions of kidneys from mice with polycystic kidney disease

“…In addition to fluid accumulation, epithelial cell hyperplasia is an essential feature of PKD (19,20). Hyperplasia of epithelial cells has been shown in many cysts (19,21,22), and it has been reported that the earliest changes noted in the development of cysts are proximal tubule cell hyperplasia and tubule dilatation (23,24). Polyps are also a common feature of cyst epithelial cells in both genetic and non-genetic forms of the disease as well as chemicaUy-induced models of PKD (19,21,(25)(26)(27)(28).…”

X‐chromosome polysomy in the female: personal experience and review of the literature

“…The penta-X syndrome presents a clinically recognizable specific pattern of malformations which includes severe mental retardation, short stature, mongoloid appearance and radio-ulnar synostosis (Zajqczkowska et al 1970, Sergovich et al 1971, Yamada & 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 & Stevens 1975, Moedjono et al 1978, Archidiacono et al 1979, Carpenter et al 1979, Dryer et al 1979, Gardner 1979, Monheit et al 1980, Schroeter et al 1980, Toussi et al 1980, Funderburk et al 1981, Fragoso et al 1982). The only patient in our material (case 20) presented the typical clinical syndrome (Tumba et al 1977).…”

“…The role and influence of supernumerary Xchromosomes in the female has been considered by different authors during the past few years, but an important number of questions and problems still remains concerning their effect on mental, somatic and sexual development (Telfer et al 1970, Hamerton 1971, Sergovichet al 1971, Gardner et al 1973, Olanders 1974, Smith et al 1974, Twang 1974, Tennes et al 1975, Nielsen et al 1977, Tumba et al 1977, Dewhurst 1978, Haka-Ikse et al 1978, Gardner 1979, de Grouchy et al 1979, Collen et al 1980, Hier et al 1980, Funderburk et al 1981, de Grouchy & Turleau 1982.…”