PARTIAL 18Q-TRISOMY AND 18P-MONOSOMY RESULTING FROM A MATERNAL PERICENTRIC-INVERSION, INV(18)(P11.2Q21.3)

被引：16

作者：

ASANO, T

IKEUCHI, T

SHINOHARA, T

ENOKIDO, H

HASHIMOTO, K

机构：

[1] NIPPON MED COLL,DEPT PEDIAT,BUNKYO KU,TOKYO 113,JAPAN

[2] TOKYO MED & DENT UNIV,MED RES INST,DEPT CYTOGENET,BUNKYO KU,TOKYO 113,JAPAN

[3] JAPAN RED CROSS MED CTR,DEPT HUMAN CYTOGENET,SHIBUYA KU,TOKYO 150,JAPAN

[4] SHIMODATE CITY HOSP,DEPT PEDIAT,SHIMODATE,IBARAKI 308,JAPAN

来源：

JAPANESE JOURNAL OF HUMAN GENETICS | 1991年 / 36卷 / 03期

关键词：

CHROMOSOME-18; RECOMBINANT CHROMOSOME; PARTIAL MONOSOMY-18P; PARTIAL TRISOMY-18Q;

D O I：

10.1007/BF01910544

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (p11.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (p11.2-pter) of chromosome 18. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.

引用

页码：257 / 265

页数：9

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