Extra small metacentric chromosome identified as i(18p).

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Extra 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.

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An 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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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...

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Multiple anomalies associated with a small extra metacentric autosome.

In man there are three well-known syndromes that are associated with an extra autosome. These are Down's syndrome (mongolism) with 21-trisomy (Lejeune, Gautier, and Turpin, 1959; Jacobs et al., 1959; Book, Fraccaro, and Lindsten, 1959), 13-15 trisomy (Patau et al., 1960), and 17-18 trisomy (Edwards et al., 1960; Smith et al., 1960). There have been five previously reported patients with a small...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1979

ISSN: 1468-6244

DOI: 10.1136/jmg.16.1.69