2015;58(1):44–6. She was first evaluated at the age of 18 years because of mild intellectual disability requiring a dedicated teacher at school. There are several gaps in the sequence. Moreover, GRIK1 alterations were shown to be associated with various neurobehavioral phenotypes in humans, such as anxiety disorders, schizophrenia, bipolar disorder, epilepsy and PDD-NOS (pervasive developmental disorder not otherwise specified) [11–13], as well as with anxiety-like behaviors in GRIK1 knockout mice – due to its regulation of inhibitory circuits in the amygdala [14]. Patients 4 and 5, with similar proximal 21q deletions, showed the most severe clinical features, mainly consisting in intellectual disability (Table 1). [8], On several locations in the world people are studying on the subject of 1q21.1 deletion syndrome. Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, et al.

Personal autonomy skills (e.g. The effect of the syndrome on the child cannot be predicted[citation needed]. In this study we characterized five patients with partial 21q monosomies by array-CGH and conventional karyotyping. To the best of our knowledge, this is the first report showing 21q deletions in adult patients associated with mild phenotypes, mainly consisting of neurobehavioral abnormalities, such as obsessive-compulsive disorders, poor social interactions and vulnerability to psychosis. He was first evaluated at the age of 20 years because of mild intellectual disability, requiring a dedicated teacher at school, and autistic-like features. The gaps represent approximately 700 Kilobase. Hu J, Chen K, Ni B, Li L, Chen G, Shi S. A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype. [7], The structure of 1q21.1 is complex. 2014;511(7510):421–7.

Selective and focused attention, mental control and response flexibility, as assessed by the Stroop Test, resulted inadequate. CNVs occur due to non-allelic homologous recombination mediated by low copy repeats (sequentially similar regions).

2015;141(3):397–405. In addition, the 220-kb 16p11.2 deletion has also been widely associated with susceptibility to isolated severe early-onset obesity (OMIM 613444) [18].

There are also some a-typical variants. Tinkel-Vernon H, Finkernagel S, Desposito F, Pittore C, Reynolds K, Sciorra L. Patient with a deletion of chromosome 21q and minimal phenotype. Based on the meiotic process, the syndrome may occur in two ways. Google Scholar. Approximately 20 to 40 days after fertilization, something goes wrong in the construction of the body parts and brain, which leads to a chain reaction. Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing.

Article  16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems. 1b and c), and the typical 220-kb deletion on chromosome 16p11.2 (OMIM 613444), arr[hg38] 16p11.2 (28,813,473-29,030,738)x1. PLoS One. Molecular karyotyping (array-CGH) was performed on DNA samples, extracted from patient’s peripheral blood according to standard methods, by using a whole-genome 180 K Agilent array (Human Genome CGH Microarray, Agilent Technologies, Santa Clara, CA, USA), according to manufacturer’s protocol. PubMed  [11], Research is done on 10–12 genes on 1q21.1 that produce DUF1220-locations. More detailed information about the symptoms, causes, and treatments of Chromosome 21q deletion syndrome is available below. Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V. Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. Parents of patient 4 denied permission to publish pictures. She was born at term after uneventful pregnancy (birth weight: 3,400 g, birth length: 50 cm). Subsetting of the great 21q region 1 described by Lyle and colleagues in 2009 into two smaller subregions. 2010;152A(10):2618–22. [citation needed], There may be a relation between autism and schizophrenia. Interstitial deletion of chromosome 21q and schizophrenia susceptibility.

Ying SW, Kanda VA, Hu Z, Purtell K, King EC, Abbott GW, et al. The phenotypic intrafamilial variability might be due to additive genetic and environmental factors that potentially have accumulated in the oldest member of the family. During the talks, she often showed propensity to give fast and impulsive answers. Patients with a deletion overpassing the two subregions clinically manifested the most severe phenotype. Wu LJ, Ko SW, Toyoda H, Zhao MG, Xu H, Vadakkan KI, et al. Schizophr Res. diagnostic and statistical manual of mental disorders, fourth edition, pervasive developmental disorder not otherwise specified.

Lindstrand A, Malmgren H, Sahlén S, Schoumans J, Nordgren A, Ergander U, et al. Features that often occur in people with chromosome 14q deletion include developmental delay, … 10p partial monosomy syndrome|10p partial monosomy syndrome (disorder)|12p partial monosomy syndrome|12p partial monosomy syndrome (disorder)|16p11.2 deletion syndrome|18-p syndrome with associated immunodeficiency|18-p syndrome with associated immunodeficiency (disorder)|21q partial monosomy syndrome|21q partial monosomy syndrome (disorder)|21q partial proximal monosomy syndrome|22q partial … Terms and Conditions, Am J Med Genet A. The aspect of the size and development of the brain is related to autism (macrocephaly) and schizophrenia (microcephaly). This gene (OMIM 138245) might be considered a plausible candidate for autism and other neurobehavioral disorders, since it codifies for a protein belonging to the kainate family of excitatory glutamate receptors that are activated in a variety of neurophysiologic processes. The proband also had a heterozygotic twin brother with normal neurological assessment, normal IQ score (88), and obesity. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. In agreement with our observations, it has been reported that Sod1−/− mice presented tremors along with gait disturbances and skeletal muscle atrophy [8, 9]. 2009;15(10):1186–94.

In addition, social insight, spatial perception, problem solving, logical and sequential reasoning appeared limited. The MRI with contrast highlighted the presence of a microadenoma (35 mm) at the centre of the hypophysis. [1], Recognised symptoms are:[citation needed]. [citation needed], Treatment of manifestations: routine treatment of ophthalmologic, cardiac, and neurologic findings; speech, occupational, and physical therapies as appropriate; specialized learning programs to meet individual needs; antiepileptic drugs or antipsychotic medications as needed. According to the literature, very few cases of behavioral disorders with 21q deletions have been described until now [13, 24]. Accordingly, the behavioral disorders observed in our family suggest that GRIK1 might be considered the most favorable candidate gene.

Hum Genet. a parent is unknowingly the carrier of a chromosome with a copy number variation and passes it at conception to the child, with different consequences for the child. The language was rather simple. Copyright © 2014 Health Grades Inc. All rights reserved. 2007;96:46–61. 2). The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Increased anxiety-like behavior and enhanced synaptic efficacy in the amygdala of GluR5 knockout mice. The three family members (patients 1–3) showed mild clinical features, such as facial dysmorphisms and behavioral abnormalities, mainly consisting of obsessive-compulsive features, poor social interactions and vulnerability to psychosis, fully expressed in the father. In primary school she was noted to have learning difficulties associated with dyslexia and dyscalculia. [citation needed]. Clin Genet. McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, et al. When this gene is not available in the 1q21.1 area, it leads to microcephaly. Sometimes adults have mild problems with the syndrome. It is not clear whether the list of symptoms is complete.

Am J Hum Genet.

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