Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5) (q27;p15.3) in a family with three mentally retarded individuals

被引：0

作者：

Granzow M. ^{[1
]}

Popp S. ^{[1
,2
]}

Keller M. ^{[1
]}

Holtgreve-Grez H. ^{[1
]}

Brough M. ^{[1
]}

Schoell B. ^{[1
]}

Rauterberg-Ruland I. ^{[3
]}

Hager H.-D. ^{[1
]}

Tariverdian G. ^{[1
]}

Jauch A. ^{[1
]}

机构：

[1] Institute of Human Genetics, Ruprecht Karls-University Heidelberg, 69120 Heidelberg

[2] Deutsches Krebsforschungszentrum, Div. Carcinogenesis Differentiation, 69120 Heidelberg

[3] Childrens Hospital, University of Heidelberg, Department of Pediatric Neurology, 69120 Heidelberg

来源：

Human Genetics | 2000年 / 107卷 / 1期

关键词：

Genetic Counseling; Mental Retardation; Prenatal Diagnosis; Chromosome Aberration; Dysmorphic Feature;

D O I：

10.1007/s004390000321

中图分类号：

学科分类号：

摘要：

Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosome aberrations. Here we present a multiplex fluorescence in situ hybridization telomere integrity assay which allows the detection of submicroscopic aberrations in the telomeric regions of all chromosomes. This novel approach identified an unbal anced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three cases of unexplained mental retardation and dysmorphic features. The symptoms of the patients represent neither the classical dup(3q)- nor cri du chat syndrome, although all affected individuals demonstrate several features of both syndromes. The identification of two balanced translocation carriers emphasizes the significance of the telomere integrity assay for genetic counseling and prenatal diagnosis.

引用

页码：51 / 57

页数：6

共 2 条

[1] Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5) (q27;p15.3) in a family with three mentally retarded individuals
Granzow, M
Popp, S
Keller, M
Holtgreve-Grez, H
Brough, M
Schoell, B
Rauterberg-Ruland, I
Hager, HD
Tariverdian, G
Jauch, A
HUMAN GENETICS, 2000, 107 (01) : 51 - 57
[2] A case of acute nonlymphocytic leukemia with a derivative chromosome 5 resulting from a subtle unbalanced translocation, der(5)t(5;17)(p15.3;q25.1)
Nobbs, MC
Howell, RT
Kingston, PJ
McDermott, A
CANCER GENETICS AND CYTOGENETICS, 1997, 97 (01) : 73 - 75

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