A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
نویسندگان
چکیده
A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.
منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
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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 22 4 شماره
صفحات -
تاریخ انتشار 1985