Microdeletion syndrome
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
... Background: The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering ...
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Monozygotic Twins with 17q21.31 Microdeletion Syndrome
... In the case of our patients who show no CNV differ- ences, all other factors mentioned above could contribute to their subtle phenotypic discordance. The currently emerg- ing whole exome and whole genome sequencing ...
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Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
... Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common ...
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Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
... 4q21 microdeletion syndrome with a common phenotype in- cluding marked growth restriction, hypotonia, severe de- velopmental delay with absent or delayed speech, small hands and feet and distinctive facial ...
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NF1 microdeletion syndrome: case report of two new patients
... this region are responsible for NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of NF1 and its flanking regions have been asso- ciated with more severe phenotype than NF1 ...
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Familial inheritance of the 3q29 microdeletion syndrome: case report and review
... 3q29 microdeletion syndrome cohorts; however, given that the co-occurrence of anemia may be coincidental, additional patients are needed to confirm whether this is a rare feature of the 3q29 ...3q29 ...
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Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
... formation (tetralogy of Fallot) and facial dysmorphism. Pediatric geneticist referred the child to us to evaluate for 22q11.2 microdeletion syndrome. The child was born to a 23 year-old mother at 33 weeks 5 ...
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Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips
... In this study, we used biocompatible Ppy nanoparticles to fabricate nanostructure microchips and conjugated the device with a highly specific antibody anti-CD147 to isolate fNRBCs from maternal peripheral blood for NIPT ...
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A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
... The widespread use of genomic DNA array-based tech- nologies to detect whole genome copy number varia- tions (CNVs) has led to the identification of novel recurrent genomic disorders associated with syndromic or ...
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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
... The 3q29 interstitial deletion region encompasses five known genes and at least 17 transcripts with unknown functions and is flanked by two highly homologous region-specific low-copy repeats (LCRs) [1]. The presence of ...
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Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis
... 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital ...2p15p16.1 ...
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Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
... Background: Purine-rich element binding protein A ( PURA , MIM 600473), is considered the crucial phenocritical gene for an emerging 5q31.3 microdeletion syndrome. To date, at least seven affected ...
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Chromosome 15q24 microdeletion syndrome
... Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual ...
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16p11 2 microdeletion syndrome: a case report
... Our patient is a 2-year-old white girl born at 39th week of pregnancy through caesarean section to non- consanguineous Italian parents. The proband’s mother is obese and suffers from mild MR and minor dysmorphism. Her ...
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Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
... deletion syndrome, raising the question about the impact of this genetic alteration on tumorigenesis and highlighting the need of molecular analysis of germ cell tumors as only little is known about their genetic ...
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A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
... V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu- Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, ...
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De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus
... There is no recognized microdeletion syndrome for this chromosomal region, indicating that pathogenic genomic imbalance in this region is rare. For larger dele- tions which include additional genes outside ...
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Adult expression of a 3q13.31 microdeletion
... The four genes (GAP43, DRD3, LSAMP, and ZBTB20) that have been posited as contributing to the brain phenotype of the 3q13.31 microdeletion syndrome are all overlapped by this patient's deletion (Figure 2) ...
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Deletion 22q13.3 syndrome
... 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to ...
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A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
... Our patient, together with previously reported pa- tients, identified a well-defined, more benign, 14q13 dis- tal microdeletion syndrome. The major phenotype includes choreoathetosis, tooth agenesis, ...
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