MILLER-DIEKER SYNDROME DUE TO MATERNAL CRYPTIC TRANSLOCATION T(10-17)(Q26.3-P13.3)

被引：18

作者：

MASUNO, M ^{[1
]}

IMAIZUMI, K ^{[1
]}

NAKAMURA, M ^{[1
]}

MATSUI, K ^{[1
]}

GOTO, A ^{[1
]}

KUROKI, Y ^{[1
]}

机构：

[1] KANAGAWA CHILDRENS MED CTR,DIV NEONATOL,YOKOHAMA,KANAGAWA 232,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 04期

关键词：

MILLER-DIEKER SYNDROME; CRYPTIC TRANSLOCATION; SUBMICROSCOPIC DELETION; 17P13.3; FISH; PERSISTENT PUPILLARY MEMBRANE;

D O I：

10.1002/ajmg.1320590409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17) (q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH), Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. (C) 1995 Wiley-Liss, Inc.

引用

页码：441 / 443

页数：3

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