Trisomy 10p syndrome owing to maternal pericentric inversion.
نویسندگان
چکیده
A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.
منابع مشابه
A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical fin...
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A pericentric inversion (10)(p15q24) was observed in three generations of a family. One daughter of the inversion carrier was found to have the inv(10) and trisomy 18. The other offspring had a recombinant (10) chromosome.
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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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عنوان ژورنال:
- Journal of medical genetics
دوره 27 4 شماره
صفحات -
تاریخ انتشار 1990