An extra small metacentric chromosome in a female child.
نویسندگان
چکیده
Three cases associating multiple congenital anomalies with a small extra metacentric chromosome have been reported by Fr0land, Holst, and Terelev (I963), Gustavson, Atkins, and Patricks (I964), and Taft, Dodge, and Atkins (I965). All three occurred in boys. Because this occurred in male patients only, the possibility that this extra small chromosome was associated with the X chromosome could not be disproved. In this report, we wish to record the presence of a similar chromosomal abnormality occurring in a mentally retarded female child.
منابع مشابه
An extra small metacentric chromosome in association with multiple congenital abnormalities.
Excess genetic material in the form of a small metacentric chromosome, often smaller than a member of the G group, has been reported in a number of cases (Ilberry, Lee, and Winn, 1961; Fr0land, Holst, and Terslev, 1963; Uchida et al, 1964; Taft, Dodge, and Atkins, 1965; Gustavson, Atkins, and Patricks, 1964, Crawfurd and Lele, 1965; Tamburro and Johnson, 1966; Gamstorp, Hfikansson, and Lagergre...
متن کاملExtra small metacentric chromosome identified as i(18p).
A case of a supernumerary metacentric small chromosome, diagnosed at birth, is described. The cytogenetic findings support its identification as i(18p). The clinical development from birth to 12 months is reported, with particular attention given to the psychomotor retardation and to the immunological aspect.
متن کاملFamilial occurrence of a small, supernumerary metacentric chromosome in phenotypically normal women.
Atypical, additional, metacentric chromosomes, approximating in size to that of G group chromosomes, have been reported in patients with undifferentiated types ofmental retardation and congenital malformation (Fr0land, Holst, and Terslev, 1963; Gustavson, Atkins, and Patricks, 1964; Taft, Dodge, and Atkins, 1965; Tamburro and Johnson, 1966; Ferrante et al., 1968; Ishmael and Laurence, 1968; Muk...
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عنوان ژورنال:
- Journal of medical genetics
دوره 3 4 شماره
صفحات -
تاریخ انتشار 1966