Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation

2004 ◽  
Vol 24 (4) ◽  
pp. 290-292 ◽  
Author(s):  
Maria Valeria Migliori ◽  
Antonella Pettinari ◽  
Anna Maria Ciaschini ◽  
Paola Piermattei ◽  
Francesco Pigliapoco ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome Translocation ◽  
Maternal Chromosome

Comparison of fetal and maternal chromosome polymorphisms: Applications in prenatal diagnosis

1982 ◽  
Vol 2 (1) ◽  
pp. 25-31 ◽  
Author(s):  
M. Frydman ◽  
D. A. Greenberg ◽  
T. K. Mohandas ◽  
M. M. Kaback
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Chromosome

scholarly journals THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

2013 ◽  
Vol 16 (2) ◽  
pp. 23-28 ◽  
Author(s):  
M. Vasilevska ◽  
E. Ivanovska ◽  
K. Kubelka Sabit ◽  
E. Sukarova-Angelovska ◽  
G. Dimeska
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
De Novo ◽  
Chorionic Villus ◽  
Recurrence Risk ◽  
Chromosome Translocation ◽  
Chromosomal Translocations ◽  
Reciprocal Translocations ◽  
Autosome Translocation ◽  
The Republic

ABSTRACT Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 prenatal samples. The materials came from amniocentesis and chorionic villus samples (CVS). We detected seven Robertsonian translocations (0.18%), eight autosomal reciprocal translocations (0.21%) and one sex chromosome translocation (0.03%). The overall frequency of all translocations was 0.42%. Balanced state translocations were 0.29% and the frequency of translocations in an unbalanced state was 0.13%. There was one balanced de novo X-autosome translocation [46,X,t(X;10)(p11.23;q22.3)] and one balanced double translocation [46,XX,t(1;21);t(7;16)(1p21; 21q11) (7q31;16q23)] inherited from the mother. Most of the detected translocations were the result of unknown familial translocations, but some of them had been previously detected in one of the parents. In order to detect the recurrence risk for future pregnancies, we proposed genetic counseling in each of the cases and we established whether the parents were heterozygous for the same translocation. Histopatological findings for some unbalanced translocations correlated with phenotypes of detected unbalanced karyotypes

scholarly journals De novo Atypical Chromosome Translocation 46, XY, t(4;13)(q12;p12)dn in Prenatal Diagnosis

2018 ◽  
Vol 12 (4) ◽  
Author(s):  
Chetta M ◽  
Di-Matteo L ◽  
Russo M ◽  
Sodano E ◽  
Festa M ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Chromosome Translocation

PRENATAL DIAGNOSIS OF AN UNBALANCED CHROMOSOME TRANSLOCATION IDENTIFIED BY DIRECT KARYOTYPING OF CHORIONIC BIOPSY

The Lancet ◽  
1983 ◽  
Vol 322 (8364) ◽  
pp. 1426-1427 ◽  
Author(s):  
I.Z. Mackenzie ◽  
R.H. Lindenbaum ◽  
C. Patel ◽  
G. Clarke ◽  
M. Crocker ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosome Translocation

A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽  
2001 ◽  
Vol 7 (4) ◽  
pp. 416-418 ◽  
Author(s):  
M. Acquila ◽  
F. Bottini ◽  
A. Valetto ◽  
D. Caprino ◽  
P. G. Mori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Haemophilia B ◽  
New Strategy

185: Does Prenatal Diagnosis Influence the Morbidity Associated with Left in Non or Poorly-Functioning Renal Moiety After Endoscopoic Puncture of Ureterocele?

2004 ◽  
Vol 171 (4S) ◽  
pp. 49-49
Author(s):  
Boris Chertin ◽  
Ron Rabinowitz ◽  
Avner Polak ◽  
Irit Hadas-Halpren ◽  
Amicur Farkas
Keyword(s):  
Prenatal Diagnosis
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