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Wong Jasmine C Y - - 2010
Monosomy 7 and del(7q) are associated with adverse features in myeloid malignancies. A 2.5-Mb commonly deleted segment (CDS) of chromosome band 7q22 is implicated as harboring a myeloid tumor suppressor gene (TSG); however, molecular analysis of candidate TSGs has not uncovered loss of function. To determine whether haploinsufficiency for the ...
Rea Gillian - - 2010
Interstitial deletions of chromosome 3q22.3-25.1 are very rare with only five previous reports of deletions in this region [1,2,4,7,9]. We describe a case of a female infant with a de novo deletion. Dysmorphic features and congenital heart disease led to a clinical genetics assessment on day 1 of life. Chromosomal ...
Roche Ana - - 2010
Axenfeld-Rieger (AR) ocular anomaly might be due to deletions of different chromosomes. No association between AR, mental retardation, and retinoblastoma has been described. We report a 2-month-old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. ...
Abu-Amero Khaled K - - 2010
PURPOSE: To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature. METHODS: Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded chromosomes and 244K array CGH analysis. ...
Kumagai Reiko - - 2010
The amelogenin gene on the Y chromosome (AMELY) is a homolog of the X chromosome amelogenin gene (AMELX), and the marker is employed for sexing in forensic casework. Deletion of the sequences in the Yp11.2 region containing the AMELY locus has been found in males from various ethnic populations. Two ...
El-Hattab Ayman W - - 2010
OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spine abnormalities) is a rare defect with estimated incidence of 1 in 200,000 live births. Most cases are sporadic, with no obvious cause. However, it has been rarely reported in patients with family members having similar malformations or with chromosomal ...
Backx Liesbeth - - 2010
Subtelomeric rearrangements involving chromosome 6q have been reported in a limited number of studies. Although the sizes are very variable, ranging from cytogenetically visible deletions to small submicroscopic deletions, a common recognizable phenotype associated with a 6q deletion could be distilled. The main characteristics are intellectual disabilities, hypotonia, seizures, brain ...
Kato Zenichiro - - 2010
BACKGROUND: Interstitial deletion of chromosome 18q is rare, making it difficult to assign phenotypes to particular cytogenetic deletions. CASE: We present an 18-year-old female with an interstitial deletion of chromosome 18q21.2-q21.33. The clinical features included severe psychomotor retardation with mild growth retardation, hypotonia, midfacial hypoplasia, carp-shaped mouth, hypertelorism, strabismus, narrow ...
Butler Merlin G - - 2010
We present an infant girl with a de novo interstitial deletion of the chromosome 15q11-q14 region, larger than the typical deletion seen in Prader-Willi syndrome (PWS). She presented with features seen in PWS including hypotonia, a poor suck, feeding problems, and mild micrognathia. She also presented with features not typically ...
Woo Kwang-Sook KS Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, - - 2010
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824?99,824,130), demonstrating higher resolution than the conventional ...
Andresen J H - - 2010
13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and ...
Piccione Maria - - 2010
Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed ...
Paliwal Preeti - - 2010
OBJECTIVE: To report an unusual finding of chromosome 1q deletion in a man with failed multiple hypospadias repair. DESIGN: Case report and discussion. SETTING: An academic tertiary care hospital. PATIENT(S): A 32-year-old man with failed multiple hypospadias repair. INTERVENTION(S): Clinical, hormonal, cytogenetic evaluation, fluorescent in situ hybridization (FISH), and ultrasonography. ...
Balasubramaniam S - - 2010
OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by ...
Rifai Laila - - 2010
We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectodermal anomalies. She showed thin, atrophic skin, sparse, brittle, slowly growing hair, ...
Simioni M - - 2010
Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose. They are often associated with structural and functional anomalies of the central nervous system similar to those found in 22q11.2 deletion syndromes. In addition, there are some isolated reports of MFDH and 22q11.2 deletion. These ...
Chen Wei - - 2010
BACKGROUND: The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as targets for rearrangements. Here we investigated chromosomal instability of Streptomyces avermitilis, an important producer of avermectins, and ...
Jakubiczka S - - 2010
Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9. Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft ...
Bogdanowicz J - - 2010
Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, ...
Nagarajan Lalitha - - 2010
Several, acquired, non-random chromosomal deletions have been characterized in acute myelogenous leukemia (AML). While the deletion limits vary among patients, there are consistent regions of overlap among the deleted segments between patients. Furthermore, chromosomal deletions are achieved frequently by unbalanced translocations between two and more chromosomes resulting loss of candidate ...
Karagol Belma Saygili - - 2010
Facial asymmetry present only on crying has been described as a separate entity and termed asymmetric crying facies. The cause of the facial asymmetry in this disorder is congenital absence or hypoplasia of the depressor anguli oris muscle at the corner of the mouth. This defect is associated at times ...
Bailey Nathanael G - - 2010
We report on a two-year-old female with a de novo proximal interstitial deletion of the short arm of chromosome 4 and a tetralogy of Fallot malformation. The patient had a karyotype of 46,XX,del(4)(p14p15.33) that was further characterized by array comparative genomic hybridization (aCGH). Phenotypic abnormalities for our patient are compared ...
D'Angelo Carla S - - 2010
Rearrangements of 1p36 are the most frequently detected abnormalities in diagnostic testing for chromosomal cryptic imbalances and include variably sized simple terminal deletions, derivative chromosomes, interstitial deletions, and complex rearrangements. These rearrangements result in the specific pattern of malformation and neurodevelopmental disabilities that characterizes monosomy 1p36 syndrome. Thus far, no ...
Delorme Richard - - 2010
Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome), suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. ...
Haldeman-Englert Chad R - - 2010
We report here on a normal-appearing male with pervasive developmental disorder who was found to have a de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high-density oligonucleotide microarray was performed, showing an 8.8-Mb heterozygous deletion at 21q21.1-q21.3. Interestingly, the deletion is distal ...
Corthals Sophie L - - 2010
We have used copy number variation (CNV) analysis with SNP mapping arrays for miRNA-15a and miRNA-16-1 expression analysis in patients with multiple myeloma (MM) with or without deletion of chromosome 13q14. MiRNA-15a and miRNA-16 display a range of expression patterns in MM patients, independent of the chromosome 13 status. These ...
Lafay-Cousin Lucie - - 2009
Chromosome-specific low copy repeats (LCRs) are implicated in several clinically significant microdeletion and microduplication syndromes. The well-recognized phenotype of DiGeorge/velocardiofacial syndrome (DG/VCF) results from deletions of the long arm of chromosome 22 (22q11.2) mediated by the proximal LCRs in this region. More recent evidence suggests that the distal LCRs within ...
Lee Hyung Joo - - 2010
We present a novel approach for generating targeted deletions of genomic segments in human and other eukaryotic cells using engineered zinc finger nucleases (ZFNs). We found that ZFNs designed to target two different sites in a human chromosome could introduce two concurrent DNA double-strand breaks (DSBs) in the chromosome and ...
Rossi Michael R - - 2009
Variable clinical presentations of patients with chromosomally detected deletions in the distal long arm (q) of chromosome 4 have been reported. The lack of molecular characterization of the deletion sizes and deleted genes hinders further genotype-phenotype correlation. Using a validated oligonucleotide array comparative genomic hybridization (oaCGH) analysis, we examined two ...
Shinawi Marwan - - 2009
We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including developmental delay, mental retardation and seizures. This deletion likely resulted from nonallelic homologous recombination between low-copy repeats on the normal and inverted region of chromosome 15q13.3. Although this deletion also ...
Bursztejn Anne-Claire - - 2009
Monosomy 1p36 is the most frequent terminal deletion known in Humans. Typical craniofacial features, developmental delay/mental retardation, seizures and sensorineural defects characterize 1p36 deletion syndrome. Aicardi syndrome (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenesis and infantile spasms responsible for mental retardation. By screening DNA ...
Wincent Josephine - - 2010
Many distal deletions of chromosome 11q have been described, but reports on deletions of 11q13-q14 are rare in the literature. Here we describe the genotype and phenotype of a boy with a deletion of this region. We fine mapped the aberration with array-CGH, revealing an 18.2 Mb deletion. The main ...
Lindstrand A - - 2010
We have investigated three patients with 21q deletions, two with developmental delay, dysmorphic features and internal organ malformations, and one with cognitive function within the normal range but with some deficits in gross and fine motor development. All aberrations were characterized by array-comparative genomic hybridization (array-CGH). In addition, extensive fluorescence ...
Nagamani Sandesh Chakravarthy Sreenath - - 2010
Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating ...
Rope Alan F - - 2009
OBJECTIVE: To test the hypothesis that the prevalence of deletion 22q11.2 among individuals who meet criteria for DiGeorge anomaly (DGA) is lower than the 90% commonly cited. STUDY DESIGN: Participants were identified through retrospective chart reviews on all patients who underwent testing for deletion 22q11.2 and all patients with a ...
Drucker Kristen L - - 2009
Nearly 10% of human gliomas are oligodendrogliomas. Deletion of chromosome arm 19q, often in conjunction with deletion of 1p, has been observed in 65-80% of these tumors. This has suggested the presence of a tumor suppressor gene located on the 19q arm. Chromosome 19 deletion is also of interest due ...
Herzog Christopher R - - 2009
Lung adenocarcinomas (LAC) of smokers and never-smokers differ from one another in epidemiology, and clinical and molecular characteristics. The pathogenetic differences between these tumors are potential biomarkers and therapeutic targets. Mouse carcinogenesis models of human LAC are proven tools applicable for the identification of these molecular changes. Allelic loss frequency ...
Thienpont Bernard - - 2009
In 1991, a large family was described with an autosomal dominant inheritance of otological and branchial manifestations which was termed branchio-otic syndrome type 2 (BOS2). This trait was mapped by linkage analysis in this family to a region of 23-31 Mb on chromosome 1q25.1q32.1. In the present report we describe ...
Koehler Udo - - 2010
Interstitial deletions or apparently balanced translocations involving bands 1p31 and 1p32 in the short arm of chromosome 1 are rarely described chromosomal imbalances. To our knowledge, there have been six cases documented to date. Five of these cases, where the NFIA gene is involved, show complex central nervous system malformations ...
Siddiqui Ajaz M - - 2009
Congenital grouped pigmentation of the retinal pigment epithelium (CGPRPE) is a rare ocular abnormality that has been described as an isolated finding or in conjunction with a few systemic conditions. We present the case of a patient with CGPRPE who also has microcephaly, intrauterine growth retardation, mild developmental delay, and ...
Visone Rosa - - 2009
Chromosomal abnormalities, immunoglobulin heavy chain variable-region (IGHV) gene mutation status, and zeta-associated protein 70 (ZAP-70) expression levels have independent prognostic relevance in chronic lymphocytic leukemia (CLL); however, their concordance is variable. Because deregulation of microRNAs has been linked to disease initiation and progression in CLL, we studied the value of ...
Wat Margaret J - - 2009
Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these ...
Mohammed Amal M - - 2009
BACKGROUND: Retinoblastoma is a neuroblastic tumor of childhood with an incidence of 1: 20 000. Retinoblastoma gene (Rb1) is a tumor suppressor gene that is located on the long arm of chromosome 13 at region 14. This study was to evaluate the constitutional monoallelic Rb1 deletion among retinoblastoma families. METHODS: ...
Poot Martin - - 2010
Patients with autism spectrum disorder (ASD) frequently harbour chromosome rearrangements and segmental aneuploidies, which allow us to identify candidate genes. In a boy with mild facial dysmorphisms, speech delay and ASD, we reconstructed by karyotyping, FISH and SNP array-based segmental aneuploidy profiling a highly complex chromosomal rearrangement involving at least ...
Nagamani S C Sreenath - - 2009
BACKGROUND: Deletions in the 17p13.3 region are associated with abnormal neuronal migration. Point mutations or deletion copy number variants of the PAFAH1B1 gene in this genomic region cause lissencephaly, whereas extended deletions involving both PAFAH1B1 and YWHAE result in Miller-Dieker syndrome characterised by facial dysmorphisms and a more severe grade ...
Bremer Anna - - 2009
Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. Here, we ...
Bug Stefanie - - 2009
In T-cell prolymphocytic leukemia (T-PLL), chromosomal imbalances affecting the long arm of chromosome 22 are regarded as typical chromosomal aberrations secondary to a TCRAD-TCL1A fusion due to inv(14) or t(14;14). We analyzed recently obtained data from conventional karyotyping, SNP-chip array copy number mapping, genome-wide expression profiling, and interphase fluorescence in ...
Heard Patricia L - - 2009
The advent of oligonucleotide array comparative genomic hybridization (aCGH) has revolutionized diagnosis of chromosome abnormalities in the genetics clinic. This new technology also has valuable potential as a research tool to investigate larger genomic rearrangements that are typically diagnosed via routine karyotype. aCGH was used as a tool for the ...
Gilmour David F - - 2009
To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR). Observational case report. A newborn female and her parents. Family members were examined by slit-lamp biomicroscopy and indirect ophthalmoscopy. Deletion mapping was performed by fluorescent in situ hybridization and genotyping. Mutation screening was undertaken by direct ...
Shinawi Marwan - - 2009
Xp22 nullisomy in males causes a phenotype consistent with the loss of one or more of the genes located in this chromosomal region. Females with similar Xp deletions rarely manifest the same phenotype. Here we describe a 10-year-old girl with a de novo interstitial deletion encompassing Xp22.2p22.32 who presented with ...
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