Extra small metacentric chromosome identified as i(18p).
نویسندگان
چکیده
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.
منابع مشابه
Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.
The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion ...
متن کاملA rare chromosomal disorder - isochromosome 18p syndrome.
BACKGROUND Tetrasomy 18p is a very rare chromosomal disorder and is the result of a spontaneous mutation early in embryonic development in most of the cases. This condition is characterised by the presence of a supernumerary 18p isochromosome (i(18p)) in all or some cells of the affected individual. It has a prevalence of 1/180000 live births and affects both genders equally. MATERIALS AND ME...
متن کاملAn 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 کاملPrenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
متن کاملAn extra small metacentric chromosome in a female child.
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 no...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 16 1 شماره
صفحات -
تاریخ انتشار 1979