Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection

1997 ◽  
Vol 67 (1) ◽  
pp. 164-165 ◽  
Author(s):  
Miguel Jean ◽  
Jean-Marie Rival ◽  
Antoine Mensier ◽  
Sophie Mirallié ◽  
Patrice Lopes ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intracytoplasmic Sperm Injection ◽  
Ring Chromosome ◽  
Chromosome 14

scholarly journals Ring Chromosome 14 Syndrome: Prenatal diagnosis of two cases with 45,XY,-14/46,XY,r(14)(p11.2q32)

2000 ◽  
Vol 2 (1) ◽  
pp. 94-94
Author(s):  
R T Schmidt ◽  
J B Ravnan ◽  
A N Lamb ◽  
M E Weinstein
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 14

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

2008 ◽  
Vol 28 (1) ◽  
pp. 69-71 ◽  
Author(s):  
Geneviève Quenum-Miraillet ◽  
Valérie Malan ◽  
Jelena Martinovic ◽  
Férechté Encha-Razavi ◽  
Bernard Aral ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Skeletal Dysplasia ◽  
Ring Chromosome ◽  
Chromosome 14

scholarly journals Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Javier Sánchez ◽  
Lutgardo García-Díaz ◽  
David Chinchón ◽  
Guillermo Antiñolo
Keyword(s):  
Prenatal Diagnosis ◽  
Cell Line ◽  
Ring Chromosome ◽  
Chromosomal Mosaicism ◽  
Chromosome 14 ◽  
Igh Locus ◽  
First Case ◽  
A Cell ◽  
Insight Into ◽  
Facial Dysmorphia

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

scholarly journals Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin

2021 ◽  
Vol 60 (4) ◽  
pp. 771-774
Author(s):  
Chih-Ping Chen ◽  
Chen-Yu Chen ◽  
Schu-Rern Chern ◽  
Shin-Wen Chen ◽  
Fang-Tzu Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Maternal Origin ◽  
Chromosome 13

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

2003 ◽  
Vol 23 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chen-Chi Lee ◽  
Li-Feng Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intrauterine Growth Restriction ◽  
Ring Chromosome ◽  
Growth Restriction ◽  
Chromosome 22 ◽  
Intrauterine Growth ◽  
Cardiovascular Abnormalities

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

2010 ◽  
Vol 152A (11) ◽  
pp. 2865-2869 ◽  
Author(s):  
Roberta Santos Guilherme ◽  
Vera de Freitas Ayres Meloni ◽  
Claudete Palmer Sodré ◽  
Denise Maria Christofolini ◽  
Renata Pellegrino ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 14 ◽  
Molecular Evaluation

scholarly journals Prenatal Diagnosis of Monosomy 6 and Ring Chromosome 6 in a Fetus with Ventriculomegaly

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 136A-136A
Author(s):  
Craig Anderson ◽  
Nancy J Carpenter ◽  
David Siegler ◽  
Burhan Say
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6

Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis

2002 ◽  
Vol 108 (2) ◽  
pp. 97-104 ◽  
Author(s):  
Maik Urban ◽  
Christiane Bommer ◽  
Cornelia Tennstedt ◽  
Katarina Lehmann ◽  
Gundula Thiel ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Case Reports ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Ring Chromosome 6
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