Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

<p>Abstract</p> <p>Background</p> <p>Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed.</p> <p>Results</p> <p>Here we present a case study of a 5-year-old girl with <it>de novo </it>submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. In contrary, array-CGH analysis indicated a small deletion of 11q22.3.</p> <p>Discussion</p> <p>To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes <it>CUL5 </it>and <it>SLN </it>could play a key role in the features described.</p

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus on genes/regions that may be subject to dosage sensitivity (haploinsufficiency (HI) and/or triplosensitivity (TS)). CNVs containing dosage sensitive genes/regions are generally interpreted as â likely pathogenicâ (LP) or â pathogenicâ (P), and CNVs involving the same known dosage sensitive gene(s) should receive the same clinical interpretation. We compared the Clinical Genome Resource (ClinGen) Dosage Map, a publicly available resource documenting known HI and TS genes/regions, against germline, clinical CNV interpretations within the ClinVar database. We identified 251 CNVs overlapping known dosage sensitive genes/regions but not classified as LP or P; these were sent back to their original submitting laboratories for reâ evaluation. Of 246 CNVs reâ evaluated, an updated clinical classification was warranted in 157 cases (63.8%); no change was made to the current classification in 79 cases (32.1%); and 10 cases (4.1%) resulted in other types of updates to ClinVar records. This effort will add curated interpretation data into the public domain and allow laboratories to focus attention on more complex discrepancies.The ClinGen Dosage Sensitivity (DS) Map provides evidenceâ based assessments of the haploinsufficiency and triplosensitivity of genes/genomic regions. We identified 251 clinical copy number variants (CNVs) in ClinVar that overlapped known DS genes/regions but were not interpreted as â likely pathogenicâ or â pathogenic;â these were sent back to their original laboratories for reâ evaluation. Of the 246 that were reâ evaluated, 63.0% resulted in updated classifications, showing that the ClinGen DS Map can be an effective initial step in CNV classification discrepancy resolution.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146425/1/humu23610_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146425/2/humu23610.pd

Harmful substances and their removal from paper pulp and circular water stream

U okviru ovoga rada dat je sistematski pregled uzroka intenzivnog povećanja sadržaja štetnih supstanci u masi papira i vodama kružnog toka u poslednjih dvadesetak godina i njihov negativan uticaj na proizvodnost papir mašina i kvalitet proizvedenog papira ili kartona. Ukratko su opisane metode određivanja sadržaja štetnih supstanci u masi papira i vodama kružnog toka, supstance koje se koriste za fiksiranje i pasiviranje štetnih supstanci, kao i procesi koji se koriste za uklanjanje štetnih supstanci iz mase papira i voda kružnog toka u cilju neometanog vođenja proizvodnje i dobijanje papira i kartona željenih svojstava.This work shows a systematic review of the cause for intensive increase of harmful substances in paper pulp and circular water streams during last twenty years, as well as their negative influence on productivity of paper machines and quality of produced paper or board. A brief description of methods for determining the content of harmful substances in paper pulp and circular water stream, substances used for fixation and deactivation of harmful substances, as well as processes used for removing harmful substances from paper pulp and circular water stream for the purpose of smooth production of paper and board with desired properties are given

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.

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