Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears

被引：12

作者：

Novelli, A

Sabani, M

Caiola, A

Digilio, MC

Giannotti, A

Mingarelli, R

Novelli, G

Dallapiccola, B

机构：

[1] Univ Roma Tor Vergata, Dept Biopathol & Diagnost Imaging, I-00133 Rome, Italy

[2] Mendel CSS Inst, Rome, Italy

[3] Bambino Gesu Hosp, Div Med Genet, Rome, Italy

来源：

MOLECULAR AND CELLULAR PROBES | 1999年 / 13卷 / 04期

关键词：

FISH; chromosome microdeletion; DiGeorge syndrome; Williams-Beuren syndrome;

D O I：

10.1006/mcpr.1999.0252

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

We describe the use of a FISH protocol for detecting chromosome microdeletions in peripheral blood smear leukocytes. This method has the advantage of a smaller sample requirement than classical metaphase chromosome analysis and the potential for analysis of a larger number of chromosome microdeletions using a routine blood smear. A selected series of 10 DiGeorge syndrome (DCS) and 12 Williams-Beuren syndrome (WBS) patients were correctly diagnosed by this method confirming results obtained by molecular cytogenetic metaphases. These results support effectiveness of interphase FISH analysis on peripheral blood smears as a focused, single-step method for the detection of chromosome microdeletions. (C) 1999 Academic Press.

引用

页码：303 / 307

页数：5

共 31 条

[1]

ADINOLFI M, 1994, ADV HUM GENET, V22, P187

[2] INSITU HYBRIDIZATION BANDING OF HUMAN-CHROMOSOMES WITH ALU-PCR PRODUCTS - A SIMULTANEOUS KARYOTYPE FOR GENE-MAPPING STUDIES [J].

BALDINI, A ;

WARD, DC .

GENOMICS, 1991, 9 (04) :770-774

[3]

Bonnet D, 1997, AM J MED GENET, V68, P182, DOI 10.1002/(SICI)1096-8628(19970120)68:2<182::AID-AJMG12>3.3.CO

[4]

2-B

[5]

BrondumNielsen K, 1997, HUM GENET, V99, P56

[6]

Calabrese G, 1996, HUM GENET, V97, P414

[7] Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients [J].

Carlson, C ;

Sirotkin, H ;

Pandita, R ;

Goldberg, R ;

McKie, J ;

Wadey, R ;

Patanjali, SR ;

Weissman, SM ;

AnyaneYeboa, K ;

Warburton, D ;

Scambler, P ;

Shprintzen, R ;

Kucherlapati, R ;

Morrow, BE .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) :620-629

[8]

DALLAPICCOLA B, 1996, CARDIOL YOUNG, V6, P264

[9]

del Rio T, 1998, CLIN GENET, V54, P129

[10]

DiGeorge A., 1965, J Pediatr, V67, P907, DOI DOI 10.1016/S0022-3476(65)81796-6

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