A Familial 14q32.32q32.33 Duplication/17p13.3 Deletion Syndrome with Facial Anomalies and Moderate Intellectual Disability

2016 ◽  
Vol 148 (4) ◽  
pp. 262-267 ◽  
Author(s):  
Chunxia He ◽  
Changhu Dong ◽  
Jingyi Li ◽  
Depin Hu ◽  
Libo Yao ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Chromosome 17 ◽  
Deletion Syndrome ◽  
Derivative Chromosome ◽  
Balanced Translocation ◽  
Moderate Intellectual Disability ◽  
Cytogenetic Aberration ◽  
Subtelomeric Rearrangement ◽  
Metopic Suture ◽  
Chromosome Regions

To our knowledge, a derivative chromosome 17 formed by a subtelomeric translocation involving chromosomes 17 and 14 has not been reported before. Here, we present the clinical and molecular cytogenetic characteristics of 2 family members with a subtelomeric rearrangement involving chromosome regions 14q32.32q32.33 and 17p13.3. The patients had moderate intellectual disability, a high forehead, a broad nasal root, downslanting palpebral fissures, epicanthal folds, retrognathia, hypertelorism, wrinkled skin over the glabella and metopic suture, and mild finger clubbing. Array CGH detected a 2.52-Mb duplication of 14q32.32q32.33 (103,805,680-106,396,479) and a 1.2-Mb deletion of 17p13.3 (87,009-1,298,869) confirmed to be pathogenic by quantitative PCR and loss of heterozygosity analysis of 17p13.3. The derivative chromosome 17 was inherited from a parental balanced translocation. To our knowledge, this cytogenetic aberration has not been described previously. The refinement of the genetic location will improve the knowledge of the genes responsible for this phenotype.

scholarly journals A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Natalya A. Lemskaya ◽  
Svetlana A. Romanenko ◽  
Mariia A. Rezakova ◽  
Elena A. Filimonova ◽  
Dmitry Yu. Prokopov ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Extra Chromosome ◽  
Brain Mri ◽  
Partial Trisomy ◽  
Breakpoint Region ◽  
Chromosome Anomaly ◽  
Chromosome 15 ◽  
Derivative Chromosome ◽  
Balanced Translocation ◽  
Mri Features

Abstract Background There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra maternally derived copy of the Prader–Willi/Angelman critical region. Trisomy 9p is the fourth most frequent chromosome anomaly with a clinically recognizable syndrome often accompanied by intellectual disability. Here we report a new case of a patient with maternally derived unique complex sSMC resulting in partial trisomy of both chromosomes 9 and 15 associated with intellectual disability. Case presentation We characterise a supernumerary derivative chromosome 15: 47,XY,+der(15)t(9;15)(p21.2;q13.2), likely resulting from 3:1 malsegregation during maternal gametogenesis. Chromosomal analysis showed that a phenotypically normal mother is a carrier of balanced translocation t(9;15)(p21.1;q13.2). Her 7-year-old son showed signs of intellectual disability and a number of physical abnormalities including bilateral cryptorchidism and congenital megaureter. The child’s magnetic resonance imaging showed changes in brain volume and in structural and functional connectivity revealing phenotypic changes caused by the presence of the extra chromosome material, whereas the mother’s brain MRI was normal. Sequence analyses of the microdissected der(15) chromosome detected two breakpoint regions: HSA9:25,928,021-26,157,441 (9p21.2 band) and HSA15:30,552,104-30,765,905 (15q13.2 band). The breakpoint region on chromosome HSA9 is poor in genetic features with several areas of high homology with the breakpoint region on chromosome 15. The breakpoint region on HSA15 is located in the area of a large segmental duplication. Conclusions We discuss the case of these phenotypic and brain MRI features in light of reported signatures for 9p partial trisomy and 15 duplication syndromes and analyze how the genomic characteristics of the found breakpoint regions have contributed to the origin of the derivative chromosome. We recommend MRI for all patients with a developmental delay, especially in cases with identified rearrangements, to accumulate more information on brain phenotypes related to chromosomal syndromes.

scholarly journals A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Makiko Tsutsumi ◽  
Hiroyoshi Hattori ◽  
Nobuhiro Akita ◽  
Naoko Maeda ◽  
Toshinobu Kubota ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Female Patient ◽  
Peripheral Blood ◽  
Regulatory Region ◽  
Translocation Chromosome ◽  
Deletion Syndrome ◽  
Balanced Translocation ◽  
Specific Pcr ◽  
Autosomal Region ◽  
Severe Intellectual Disability

Abstract Background Female carriers of a balanced X; autosome translocation generally undergo selective inactivation of the normal X chromosome. This is because inactivation of critical genes within the autosomal region of the derivative translocation chromosome would compromise cellular function. We here report a female patient with bilateral retinoblastoma and a severe intellectual disability who carries a reciprocal X-autosomal translocation. Case presentation Cytogenetic and molecular analyses, a HUMARA (Human androgen receptor) assay, and methylation specific PCR (MSP) and bisulfite sequencing were performed using peripheral blood samples from the patient. The patient’s karyotype was 46,X,t(X;13)(q28;q14.1) by G-banding analysis. Further cytogenetic analysis located the entire RB1 gene and its regulatory region on der(X) with no translocation disruption. The X-inactivation pattern in the peripheral blood was highly skewed but not completely selected. MSP and deep sequencing of bisulfite-treated DNA revealed that an extensive 13q region, including the RB1 promoter, was unusually methylated in a subset of cells. Conclusions The der(X) region harboring the RB1 gene was inactivated in a subset of somatic cells, including the retinal cells, in the patient subject which acted as the first hit in the development of her retinoblastoma. In addition, the patient’s intellectual disability may be attributable to the inactivation of the der(X), leading to a 13q deletion syndrome-like phenotype, or to an active X-linked gene on der (13) leading to Xq28 functional disomy.

The Use of Response Prompting and Frames for Teaching Sentence Writing to Students With Moderate Intellectual Disability

2016 ◽  
Vol 33 (3) ◽  
pp. 142-149 ◽  
Author(s):  
Robert Pennington ◽  
Allison Flick ◽  
Kendra Smith-Wehr
Keyword(s):  
Intellectual Disability ◽  
Time Delay ◽  
Delay System ◽  
Constant Time Delay ◽  
Intervention Package ◽  
Time Delay System ◽  
Moderate Intellectual Disability ◽  
System Of Least Prompts ◽  
Response Prompting ◽  
Multiple Probe

In the current study, we examined the effects of response prompting strategies (i.e., constant time delay, system of least prompts) and frames on sentence writing for three participants, ages 7 to 12, with moderate intellectual disability. We used a concurrent multiple probe across behaviors design to evaluate the efficacy of the intervention package and posttest probes to assess generalized responding to untrained stimulation. During intervention, the teacher taught two students to construct sentences using selection-based software and another to generate handwritten responses across three different writing frames (i.e., I want _________, I see _____, The _____ is ______). Our findings suggest that the package was effective and produced variable levels of maintenance and generalized responding for all three participants.

scholarly journals Diagnoza postępów w zakresie opanowania podstawowych umiejętności szkolnych uczennicy z umiarkowanym stopniem niepełnosprawności intelektualnej

2018 ◽  
pp. 323-338
Author(s):  
JACEK SIKORSKI
Keyword(s):  
Intellectual Disability ◽  
Point Of View ◽  
Intellectually Disabled ◽  
Disabled Students ◽  
Moderate Intellectual Disability ◽  
Basic School ◽  
Adam Mickiewicz

Jacek Sikorski, Diagnoza postępów w zakresie opanowania podstawowych umiejętności szkolnych uczennicy z umiarkowanym stopniem niepełnosprawności intelektualnej [The assessment of progress in acquiring the basic school skills by the studentwith a moderate intellectual disability]. Interdyscyplinarne Konteksty Pedagogiki Specjalnej, nr 22, Poznań 2018. Pp. 323-338. Adam Mickiewicz University Press. ISSN 2300-391X. DOI: https://doi.org/10.14746/ikps.2018.22.18 The following article takes up the issue of assessing intellectual disability from the interdisciplinary, especially psycho-pedagogical, point of view. It pays special attention to the moderate intellectually disabled students and the difficulties which they have in acquiring such basic school skills as reading, writing and counting. However, the main aim of the research was to show all the changes (progress) in the above-mentioned basic school skills in reference to the observed student with a moderate intellectual disability, which have occurred during the 10 months’ time as a result of applying both educational and therapeutic actions and an attempt to indicate the school’s education opportunities based on the results of the researchand teacher’s opinions.

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