Unbalanced translocation with partial 6p trisomy and partial 11q monosomy: a case report

被引：0

作者：

Sabbatino, MS

Melis, D

Della Casa, R

D'Agostino, A

Cascioli, MC

Parenti, G

机构：

[1] Univ Naples Federico II, Dipartimento Pediat, Naples, Italy

[2] Univ Naples Federico II, Serv Citogenet, Naples, Italy

[3] Univ Naples Federico II, Unita Diagnosi Prenatale, Naples, Italy

来源：

RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS | 1998年 / 24卷 / 05期

关键词：

unbalanced translocation; 6p partial trisomy; 11q partial monosomy;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Chromosomal rearrangements involving either the short rm of chromosome 6 or the long arm of chromosome II ave been reported in the literature. The phenotyc effects of such aberrations include growth failure, developmental delay and a costellation of dysmorphisms and functional defects of various organs. To the best of our knowledge, unbalanced translocation involving both chromosome 6 and 11 have never been observed, so far. Here we report on the clinical findings observed in a patients with a unbalanced translocation causing 6p trisomy and 11q monosomy.

引用

页码：1017 / 1020

页数：4

共 7 条

[1] ARDINGER HH, 1987, CLIN GENET, V31, P381
[2] BURD L, 1988, CLIN GENET, V33, P356
[3] DONNENFELD AE, 1990, BIRTH DEFECTS ENCY, P360
[4] FRYNS JP, 1986, CLIN GENET, V30, P255
[5] FRYNS JP, 1987, HELV PAEDIATR ACTA, V42, P191
[6] PARTIAL TRISOMY-6P WITH AGENESIS OF THE CORPUS-CALLOSUM AND CHOANAL ATRESIA
KATAFUCHI, Y
FUKUDA, T
MARUOKA, T
TOKUNAGA, Y
YAMASHITA, Y
MATSUISHI, T
[J]. JOURNAL OF CHILD NEUROLOGY, 1992, 7 (01) : 114 - 115
[7] SAKEMI K, 1995, J EXP MED, V175, P279

← 1 →