A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion

2019 ◽  
Vol 159 (3) ◽  
pp. 126-129 ◽  
Author(s):  
Elisabet Lloveras ◽  
Anna Canellas ◽  
Laura Barranco ◽  
Claudia Alves ◽  
Marta Vila-Real ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Facial Dysmorphism ◽  
Review Of The Literature ◽  
Expressive Speech ◽  
Genetic Causes ◽  
Chromosome 1Q ◽  
Rare Syndrome

1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including AKT3, ZBTB18, and HNRNPU, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.

Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature

2018 ◽  
Vol 156 (4) ◽  
pp. 173-178 ◽  
Author(s):  
Fernanda T. Bellucco ◽  
Rodrigo A. Fock ◽  
Hélio R. de Oliveira-Júnior ◽  
Ana B. Perez ◽  
Maria I. Melaragno
Keyword(s):  
Genetic Counseling ◽  
Developmental Delay ◽  
Clinical Implication ◽  
Marker Chromosome ◽  
Accurate Diagnosis ◽  
Facial Dysmorphism ◽  
Review Of The Literature ◽  
Small Supernumerary Marker Chromosome ◽  
Wide Range ◽  
Similar Phenotype

Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling.

scholarly journals Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1397
Author(s):  
Sébastien Lebon ◽  
Mathieu Quinodoz ◽  
Virginie G. Peter ◽  
Carole Gengler ◽  
Gaëlle Blanchard ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Corpus Callosum ◽  
Developmental Delay ◽  
Autism Spectrum ◽  
Subsequent Pregnancy ◽  
Facial Dysmorphism ◽  
Compound Heterozygous ◽  
Born Child ◽  
In Trans ◽  
Gene Panels

We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases were heterozygous for two KDM5B variants predicting p (Ala635Thr) and p (Ser1155AlafsTer4) that were shown to be in trans. KDM5B variants have been previously associated with moderate to severe developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and dysmorphism in a few individuals, but the pathogenetic mechanisms are not clear yet as patients with both monoallelic and biallelic variants have been observed. Interestingly, one individual has previously been reported with ACC and severe ID in association with biallelic KDM5B variants. Together with the observations in this family, this suggests that agenesis of the corpus callosum may be part of the phenotypic spectrum associated with KDM5B variants and that the KDM5B gene should be included in gene panels to clarify the etiology of ACC both in the prenatal and postnatal setting.

Lipoma of the Corpus callosum: Report of a Case and Review of the Literature

1979 ◽  
Vol 5 (5) ◽  
pp. 476-483 ◽  
Author(s):  
Tatsunori Suemitsu ◽  
Shun-Ichi Nakajima ◽  
Katsuko Kuwajima ◽  
Kenji Nihei ◽  
Shigehiko Kamoshita
Keyword(s):  
Corpus Callosum ◽  
Review Of The Literature

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

2018 ◽  
Vol 40 (2) ◽  
pp. 134-139 ◽  
Author(s):  
Yuji Nakamura ◽  
Yasuko Togawa ◽  
Yusuke Okuno ◽  
Hideki Muramatsu ◽  
Kazuhiko Nakabayashi ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Delay ◽  
Clinical Entity ◽  
Biallelic Mutations
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