De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation

2002 ◽  
Vol 113 (2) ◽  
pp. 190-192 ◽  
Author(s):  
A. Radha Ramadevi ◽  
Usha Naik ◽  
Usha Dutta ◽  
Srikanth ◽  
K. Prabhakara
Keyword(s):  
Mental Retardation ◽  
Pericentric Inversion ◽  
De Novo ◽  
Chromosome 4

De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation

2006 ◽  
Vol 140A (3) ◽  
pp. 298-299 ◽  
Author(s):  
Hakan Ulucan ◽  
Rıdvan Akın ◽  
Mehmet Kösem ◽  
Davut Gül
Keyword(s):  
Mental Retardation ◽  
Pericentric Inversion ◽  
De Novo ◽  
Chromosome 5

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay

2017 ◽  
Vol 151 (1) ◽  
pp. 5-9 ◽  
Author(s):  
Živilė Maldžienė ◽  
Eglė Preikšaitienė ◽  
Salomėja Ignotienė ◽  
Natalija Kapitanova ◽  
Algirdas Utkus ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Pericentric Inversion ◽  
Patient Management ◽  
De Novo ◽  
Chromosomal Rearrangements ◽  
Genetic Alterations ◽  
Chromosome 4 ◽  
Rieger Syndrome ◽  
Craniofacial Dysmorphism ◽  
The Family

Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements. Elucidation of the exact genetic cause of ARS is important for comprehensive genetic counseling of the family members and for better patient management.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

2010 ◽  
Vol 32 (3) ◽  
pp. 248-252 ◽  
Author(s):  
Antonietta Coppola ◽  
Pasquale Striano ◽  
Stefania Gimelli ◽  
Clotilde Ciampa ◽  
Lia Santulli ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Pharmacoresistant Epilepsy

scholarly journals A case of mental retardation having pericentric inversion on No. 9 chromosome (inv(9)(p11q13)).

1985 ◽  
Vol 61 (6) ◽  
pp. 242-244
Author(s):  
Suzue KANATA ◽  
Tetsuji KADOTANI ◽  
Yoko WATANABE ◽  
Nami MATSUO ◽  
Hidetoshi KODAMA ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Pericentric Inversion

scholarly journals LDB2 locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Yasue Horiuchi ◽  
Tomoe Ichikawa ◽  
Tetsuo Ohnishi ◽  
Yoshimi Iwayama ◽  
Kazuya Toriumi ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Risk Factor ◽  
Psychiatric Disorder ◽  
Male Patient ◽  
De Novo ◽  
Missense Variant ◽  
Chromosome 4 ◽  
Lim Domain ◽  
Balanced Translocation ◽  
Gene Encoding

AbstractWe had previously reported the case of a male patient with schizophrenia, having de-novo balanced translocation. Here, we determined the exact breakpoints in chromosomes 4 and 13. The breakpoint within chromosome 4 was mapped to a region 32.6 kbp upstream of the LDB2 gene encoding Lim domain binding 2. Variant screening in LDB2 revealed a rare novel missense variant in patients with psychiatric disorder.

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