FETAL TRANSLOCATION BETWEEN CHROMOSOME-2, CHROMOSOME-18, AND CHROMOSOME-21 RESOLVED BY FISH

被引：15

作者：

DELAROCHE, I

SABANI, M

CALABRESE, G

MINGARELLI, R

PALKA, G

DALLAPICCOLA, B

机构：

[1] UNIV ROMA TOR VERGATA,CATTEDRA GENET UMANA,I-00173 ROME,ITALY

[2] LAB CENT CRI,ROME,ITALY

[3] UNIV G ANNUNZIO,IST BIOL & GENET,CHIETI,ITALY

[4] OSPED CSS,IRCCS,ROTONDO,ITALY

来源：

PRENATAL DIAGNOSIS | 1995年 / 15卷 / 03期

关键词：

COMPLEX TRANSLOCATION; CHROMOSOMES; FISH; CONGENITAL HEART DISEASE;

D O I：

10.1002/pd.1970150312

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.

引用

页码：278 / 281

页数：4

共 13 条

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DANIEL A, 1989, AM J MED GENET, V31, P14

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