A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome

2011 ◽  
Vol 155 (2) ◽  
pp. 450-454 ◽  
Author(s):  
Carolina R. Lincoln-de-Carvalho ◽  
Fabíola M.P. Vicente ◽  
Társis A.P. Vieira ◽  
Maricilda P. de Mello ◽  
Antonia P. Marques-de-Faria
Keyword(s):  
De Novo ◽  
Cri Du Chat Syndrome ◽  
9P Duplication ◽  
5P Deletion

Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH

2013 ◽  
Vol 139 (1) ◽  
pp. 9-16 ◽  
Author(s):  
M. Kowalczyk ◽  
A. Tomaszewska ◽  
A. Podbiol-Palenta ◽  
M. Constantinou ◽  
A. Wawrzkiewicz-Witkowska ◽  
...  
Keyword(s):  
Rare Case ◽  
Array Cgh ◽  
De Novo ◽  
Cytogenetic Study ◽  
Clinical Findings ◽  
Molecular Cytogenetic ◽  
9P Duplication

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of de novo distal 5p deletion and distal 22q duplication

2020 ◽  
Vol 59 (1) ◽  
pp. 140-145
Author(s):  
Chih-Ping Chen ◽  
Jian-Pei Huang ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization ◽  
5P Deletion

A de novo Chromosomal Abnormality in Cri du Chat Syndrome

2013 ◽  
Vol 81 (7) ◽  
pp. 722-725
Author(s):  
Shunchang C Sun ◽  
Fuwei W. Luo ◽  
Zhiming M. Zhou ◽  
Yunsheng S. Peng ◽  
Huiwen W. Song
Keyword(s):  
Chromosomal Abnormality ◽  
De Novo ◽  
Cri Du Chat Syndrome

scholarly journals Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Frenny Sheth ◽  
Naresh Gohel ◽  
Thomas Liehr ◽  
Olakanmi Akinde ◽  
Manisha Desai ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Unusual Case ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Phenotypic Changes ◽  
Cri Du Chat Syndrome ◽  
5P Deletion

Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassingCTNND2due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case. However, the region 4q34.1–34.3 was previously reported as a region not leading to phenotypic changes if present in three copies, an observation which could possibly be supported by this case.Conclusion. This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.

scholarly journals De novo inv(5)(p15q22), del(5)(p15) in a boy with cri du chat syndrome.

1987 ◽  
Vol 24 (3) ◽  
pp. 186-186 ◽  
Author(s):  
H Rivera ◽  
R Velazquez ◽  
L Garcia-Esquivel ◽  
R Martinez Martinez ◽  
J M Cantu
Keyword(s):  
De Novo ◽  
Cri Du Chat Syndrome

Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous Recombination

2018 ◽  
Vol 156 (2) ◽  
pp. 65-70
Author(s):  
Zhishuo Z. Ou ◽  
Sally Kochmar ◽  
Svetlana A. Yatsenko ◽  
Audrey C. Woerner ◽  
Roxanne Acquaro ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
De Novo ◽  
Chromosome Analysis ◽  
Bioinformatic Analysis ◽  
Deletion Syndrome ◽  
Fish Analysis ◽  
Feeding Difficulties ◽  
Low Copy Repeats ◽  
5P Deletion ◽  
Nonallelic Homologous Recombination

We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, microcephaly, micrognathia, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay. In addition, the patient also had a cardiac defect, proximal esophageal atresia, and distal tracheoesophageal fistula. aCGH of the patient revealed a 22.9-Mb deletion of chromosome 5p15.33p14.3 and an 8.28-Mb duplication of chromosome 5q12.1q13.2. Parental chromosome analysis indicated that these alterations are de novo. Chromosome and FISH analysis demonstrated that the 5q12.1q13.2 duplicated segment was attached to the 5p14.3 region with the band 5q12.1 more distal to the centromere than the band 5q13.2. Based on the bioinformatic analysis, we postulate a mechanism for the formation of this complex rearrangement of chromosome 5 by 2-step-wise events mediate by nonallelic homologous recombination between low copy repeats. To the best of our knowledge this rearrangement found in our patient has not been reported in the literature. This report demonstrates the value of chromosome analysis in conjunction with FISH and aCGH for identification of complex rearrangements which cannot be revealed by array analysis alone.

The Morphology of the Rat Kidney Following Folic Acid Administration

1970 ◽  
Vol 28 ◽  
pp. 200-201
Author(s):  
Aline Byrnes ◽  
Elsa E. Ramos ◽  
Minoru Suzuki ◽  
E.D. Mayfield
Keyword(s):  
Folic Acid ◽  
De Novo ◽  
Specific Activity ◽  
Rat Kidney ◽  
Present Report ◽  
Intracellular Localization ◽  
Male Rats ◽  
Renal Hypertrophy ◽  
Electron Microscopic ◽  
Biochemical Alterations

Renal hypertrophy was induced in 100 g male rats by the injection of 250 mg folic acid (FA) dissolved in 0.3 M NaHCO3/kg body weight (i.v.). Preliminary studies of the biochemical alterations in ribonucleic acid (RNA) metabolism of the renal tissue have been reported recently (1). They are: RNA content and concentration, orotic acid-c14 incorporation into RNA and acid soluble nucleotide pool, intracellular localization of the newly synthesized RNA, and the specific activity of enzymes of the de novo pyrimidine biosynthesis pathway. The present report describes the light and electron microscopic observations in these animals. For light microscopy, kidney slices were fixed in formalin, embedded, sectioned, and stained with H & E and PAS.

Sign in / Sign up

Export Citation Format

Share Document