A third case of de novo partial trisomy 4p.
نویسندگان
چکیده
Interestingly, the previously reported patient with a different but overlapping deletion of chromosome 12 long arm (q13.3-q21.1) and the subject of this report have only a few features in common (table). The deletion in each includes the portion 12q13.3 to q21. 1. It is unclear whether the small difference in the portion of 12q deleted accounts for the fact that they do not resemble each other to a greater extent. The delineation of a syndrome associated with interstitial deletion of 12q must await reports of additional cases. The detection of subtle chromosome abnormalities such as this show the need for minimum standards for routine studies of those at risk for chromosome abnormalities. Our impression is that these minimum standards should include well banded chromosomes of the 450 to 550 band stage.
منابع مشابه
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18 Schinzel A, D'Apuzzo V. Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(pl5.2;q I1.2). Ophthalmol Paediat Genet 1990; 11: 139-42. 19 Herva R, von Wendt L. De novo trisomy 4pter-.q21. Hum Genet 1978; 41: 225-30. 20 Wilson MG, Towner JW, Coffin GS, Forsman I. Inherited pericentric inversion ofchromosome No. 4.Amj Hum Genet 1970; 22: ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 5 شماره
صفحات -
تاریخ انتشار 1989