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 Molecular-cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

2017 ◽  
Vol 16 (3) ◽  
pp. 3433-3438 ◽  
Author(s):  
Yuting Jiang ◽  
Ruixue Wang ◽  
Linlin Li ◽  
Lintao Xue ◽  
Shu Deng ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo ◽  
Cytogenetic Study ◽  
Molecular Cytogenetic ◽  
Mosaic Karyotype

scholarly journals Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female

2009 ◽  
Vol 126 (3) ◽  
pp. 305-312 ◽  
Author(s):  
P.J. Hulick ◽  
K.M. Noonan ◽  
S. Kulkarni ◽  
D.J. Donovan ◽  
M. Listewnik ◽  
...  
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Clinical Findings

Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability

2021 ◽  
pp. 1-7
Author(s):  
Tuğba Karaman Mercan ◽  
Ozden Altiok Clark ◽  
Ozgur Erkal ◽  
Banu Nur ◽  
Ercan Mihci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Array Cgh ◽  
De Novo ◽  
Homozygous Deletion ◽  
Clinical Findings ◽  
Chromosome 4 ◽  
Heterozygous Deletion ◽  
Whole Exome

Terminal deletions in the long arm of chromosome 4 are an uncommon event, with a worldwide incidence of approximately 0.001%. The majority of these deletions occur de novo. Terminal deletion cases are usually accompanied by clinical findings that include facial and cardiac anomalies, as well as intellectual disability. In this study, we describe the case of a 2-year-old girl, the fourth child born to consanguineous parents. While her karyotype was normal, a homozygous deletion was identified in the chromosome 4q35.2 region by subtelomeric FISH. A heterozygous deletion of the chromosome 4q35.2 region was observed in both parents. According to the literature, this is the first report of a case that has inherited a homozygous deletion of chromosome 4qter from carrier parents. Subsequent array-CGH analyses were performed on both the case and her parents. Whole-exome sequencing was also carried out to determine potential variants. We detected a NM_001111125.3:c.2329G&#x3e;T (p.Glu777Ter) nonsense variant of the <i>IQSEC2</i> gene in the girl, a variant that is related to X-linked intellectual disability.

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

2015 ◽  
Vol 146 (1) ◽  
pp. 39-43 ◽  
Author(s):  
Elisa Tassano ◽  
Alessandra Gamucci ◽  
Maria E. Celle ◽  
Patrizia Ronchetto ◽  
Cristina Cuoco ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Language Impairment ◽  
Array Cgh ◽  
De Novo ◽  
Phenotype Correlation ◽  
Molecular Cytogenetic ◽  
Genotype Phenotype Correlation ◽  
Cytogenetic Characterization ◽  
Inducible Gene

Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 deletions characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has been determined yet. We present a child with a de novo interstitial 1p31.1p31.3 deletion, identified by array CGH, associated with intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on GADD45A (MIM 126335; growth arrest- and DNA damage-inducible gene), LRRC7 (MIM 614453; leucine-rich repeat-containing protein 7), and NEGR1 (MIM 613173; neuronal growth regulator 1). We discuss whether these genes play a role in determining the phenotype of our patient in order to investigate the possibility of a genotype-phenotype correlation.

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

2018 ◽  
Vol Volume 11 ◽  
pp. 77-80 ◽  
Author(s):  
Isabel Ochando ◽  
Melanie Cristine Alonzo Martínez ◽  
Ana María Serrano ◽  
Antonio Urbano ◽  
Eduardo Cazorla ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals P190BCR-ABL1 in a Patient with Philadelphia Chromosome Positive T-Cell Acute Lymphoblastic Leukemia: A Rare Case Report and Review of Literature

2021 ◽  
pp. 1040-1050
Author(s):  
Samah Kohla ◽  
Sarah EL Kourashy ◽  
Zafar Nawaz ◽  
Reda Youssef ◽  
Ahmad Al-Sabbagh ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
T Cell ◽  
Rare Case ◽  
De Novo ◽  
Lymphoblastic Leukemia ◽  
Prognostic Significance ◽  
Philadelphia Chromosome ◽  
Cytogenetic Abnormality ◽  
Rare Case Report ◽  
Philadelphia Chromosome Positive

T-acute lymphoblastic leukemia/lymphoblastic lymphoma (T-ALL/LBL) is rare and aggressive leukemia. Philadelphia chromosome positive (Ph+) is the most common cytogenetic abnormality in chronic myeloid leukemia (CML) and B-acute lymphoblastic leukemia (B-ALL). Ph+ T-ALL is exceeding rare and has a therapeutic and prognostic significance. The incidence and outcome of Ph+ T-ALL are unknown. Differentiation between Ph+ T-ALL/LBL and T-cell lymphoblastic crises of CML may be difficult. We report a rare case of adult de novo T-ALL with significant monocytosis, having Ph+ with (P190 <i>BCR-ABL1</i>) as a cytogenetic abnormality. He was treated with ALL induction chemotherapy and imatinib and achieved complete remission, then relapsed twice and expired shortly after the last CNS relapse.

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