Prenatal Diagnosis of De Novo Reciprocal Translocation t(1;12)(q21.3;p11.2) with Trisomy 21 and Sperm FISH Analysis for Increased Aneuploidy Risk

被引：0

作者：

Karkucak, Mutlu ^{[1
]}

Sag, Sebnem ^{[1
]}

Yakut, Tahsin ^{[1
]}

Kimya, Yalcin ^{[2
]}

机构：

[1] Uludag Univ, Fac Med, Dept Med Genet, TR-16059 Gorukle, Bursa, Turkey

[2] Uludag Univ, Fac Med, Dept Obstet & Gynecol, TR-16059 Gorukle, Bursa, Turkey

来源：

INTERNATIONAL JOURNAL OF HUMAN GENETICS | 2010年 / 10卷 / 04期

关键词：

Prenatal Diagnosis; Translocation; Aneuploidy; Sperm FISH; Genetic Counseling; IN-SITU HYBRIDIZATION; CONSTITUTIONAL REARRANGEMENTS; CHROMOSOMAL-ABERRATIONS; FRAGILE SITES; CARRIERS; BREAKPOINTS; AMNIOCENTESIS;

D O I：

10.1080/09723757.2010.11886110

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Complex rearrangements such as de novo translocations together with aneuploidy are unusual situations in prenatal diagnosis. We report a case with de novo translocation t(1;12)(q21.3;p11.2) and trisomy 21. Father's sperm was analyzed for potential of increased risk of aneuploidy. Results showed no paternal increased risk for chromosomes 13, 18, 21, X, Y. Based on our results, we suggest that possible increased maternal aneuploidy risk add other possible mechanisms should be investigated to better understand cell division errors and to give better genetic counseling.

引用

页码：231 / 234

页数：4

共 28 条

[1] Prenatal diagnosis of de novo X;autosome translocations [J].

Abrams, L ;

Cotter, PD .

CLINICAL GENETICS, 2004, 65 (05) :423-428

[2] Incidence of chromosome 8, 10, X and Y aneuploidies in sperm nucleus of infertile men detected by FISH [J].

Acar, H ;

Kilinç, M ;

Çora, T ;

Aktan, M ;

Taskapu, H .

UROLOGIA INTERNATIONALIS, 2000, 64 (04) :202-208

[3] DNA repair mechanisms and gametogenesis [J].

Baarends, WM ;

van der Laan, R ;

Grootegoed, JA .

REPRODUCTION, 2001, 121 (01) :31-39

[4] Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei [J].

Blanco, J ;

Egozcue, J ;

Vidal, F .

HUMAN GENETICS, 2000, 106 (05) :500-505

[5]

BONET OM, 2002, MOL HUM REPROD, V8, P958

[6]

BRANDRIFF B, 1988, CLIN GENET, V34, P85

[7] AN ANALYSIS OF STRUCTURAL-ABERRATIONS IN HUMAN-SPERM CHROMOSOMES [J].

BRANDRIFF, BF ;

GORDON, LA ;

MOORE, D ;

CARRANO, AV .

CYTOGENETICS AND CELL GENETICS, 1988, 47 (1-2) :29-36

[8] CHROMOSOMAL-ABERRATIONS INDUCED BY INVITRO IRRADIATION - COMPARISONS BETWEEN HUMAN-SPERM AND LYMPHOCYTES [J].

BRANDRIFF, BF ;

GORDON, LA ;

ASHWORTH, LK ;

CARRANO, AV .

ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, 1988, 12 (02) :167-177

[9] PRENATAL-DIAGNOSIS OF A DENOVO UNBALANCED TRANSLOCATION (4P+) FOLLOWING INVITRO FERTILIZATION [J].

CANNIZZARO, LA ;

HECHT, BK ;

BIXENMAN, HA ;

PAZDZIORKO, S ;

TAMIS, R ;

HECHT, F .

PRENATAL DIAGNOSIS, 1988, 8 (04) :297-301

[10]

Caron L, 1999, AM J MED GENET, V82, P149, DOI 10.1002/(SICI)1096-8628(19990115)82:2<149::AID-AJMG10>3.0.CO

← 1 2 3 →