Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.

Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature

“…Six cases of phenotypically abnormal females with DupXq have been reported [Varella-Garcia et al, 1981;Van Dyke et al, 1983;Knuutila et al, 1984;Magenis et al, 1984;Morichon-Delvallez et al, 1988;Aughton et al, 1993]. They were associated mainly with gonadal dysgenesis, short stature, minor anomalies, and developmental delay (Table IV).…”

“…The syndrome was associated with growth hormone (GH) deficiency and empty sella syndrome in 1 case [Yokoyama et al 1992]. Six other cases of phenotypically abnormal females with DupXq have been reported, associated mainly with gonadal dysgenesis, short stature, minor anomalies, and developmental delay [Varella-Garcia et al, 1981;Van Dyke et al, 1983;Knuutila et al, 1984;Magenis et al, 1984;Morichon-Delvallez et al, 1988;Aughton et al, 1993]. We report an additional case of a male with inverted duplication of Xq13→q21.…”

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

“…This patient appears to be the first case of a female bearing a large duplication of Xq with a random X inactivation. [Schmidt et al, 1991], both Xp and Xq duplications in females have been ascertained either through their severely affected sons with duplication or in females with mental retardation and physical anomalies [Aughton et al, 1993; Knuutila et al, 1984;Magenis et al, 1984;Morichon-Delvallez et al, 1988;Tuck-Muller et al, 1993;Van Dyke et al, 1983;Varella-Garcia et al, 1981]. In most of these cases, the X chromosome inactivation is not random with the duplicated X being inactive.…”

“De novo” duplication Xq23→Xq26 of paternal origin in a girl with a mildly affected phenotype

“…With the exception of three cases with UllrichTurner syndrome or gonadal dysgenesis [Varella Garcia et al, 1981;Van Dyke et al, 1983;Knuutila et al, 1984 ] duplications of Xq lack a characteristic phenotype (Table I). Limited comparisons could be made with triple X females, although this syndrome is clinically variable due to methods of ascertainment.…”

“…Inherited duplications have been detected more frequently, segregate for several generations transmitted by female carriers who usually are normal or nearly normal (with only short stature), and have been ascertained through malformed male offspring [Aughton et al, 1993]. De novo duplications are rather rare and so far always have been associated with abnormalities such as UllrichTurner syndrome, gonadal dysgenesis [Varella-Garcia et al, 1981;Van Dyke et al, 1983;Knuutila et al, 1984], or more often congenital anomalies and mental retardation [Aughton et al, 1993]. It is not known if these differences have implications for follow-up and genetic counseling or they reflect an ascertainment bias since symptomatic females are more likely to be diagnosed.…”