[PDF] Top 20 16p11 2 microdeletion syndrome: a case report
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16p11 2 microdeletion syndrome: a case report
... D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, ... See full document
6
An atypical autistic phenotype associated with a 2q13 microdeletion: a case report
... We do not support the generalization of genetic testing because variants of unknown significance could be discovered. In addition, as aCGH investigates chromosomal imbalances throughout the genome, there is a possibility ... See full document
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Chromosomal 16p microdeletion in Rubinstein Taybi syndrome detected by oligonucleotide based array comparative genomic hybridization: a case report
... features include a prominent nasal bridge, down-slanting palpebral fissures, a small mouth, low set ears, bilateral broad thumbs and great toes and growth retardation. Congenital heart defects (mainly patent ductus ... See full document
7
The antiphospholipid antibody syndrome: a case report
... The patient reappeared 2 months later with persistent abdominal pains, this time associated with distention of 2 weeks’ duration. On examination, the patient had lost a considerable amount of weight and had ... See full document
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Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
... We report one more patient with a chromosome 12q13.13 q13.13 duplication. The phenotype of this patient shows great similarity with the previously reported patients who have either a duplication or a deletion in ... See full document
7
Ohvira syndrome – a case report
... Ohvira syndrome is an uncommon congenital anomaly with clinical significance; It is typically associated with didelphs uterus with 2 cervices and 2 vaginas, one of which is ...this case plays ... See full document
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Chromosome 15q24 microdeletion syndrome
... deletion syndrome is ...deletion syndrome in which clinical information and detailed mapping of the genomic break- points are available ...first case was reported in 2007 by Sharp et al ...deletion ... See full document
9
Monozygotic Twins with 17q21.31 Microdeletion Syndrome
... 17q21.31 microdeletion syndrome is a genomic disorder caused by a recurrent 600 kb long ...The syndrome is characterized clinically by intellectual disability, hy- potonia, friendly behavior and ... See full document
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Stiff person syndrome presenting with sudden onset of shortness of breath and difficulty moving the right arm: a case report
... Case presentation: A 27-year-old Hispanic woman presented to our emergency department with a sudden onset of shortness of breath and difficulty moving her right arm. Her physical examination was remarkable in that ... See full document
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Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
... or low penetrance through unmasking of recessive mutations (7, 9). The scarcity of ICGTs and the lack of an in-depth characterization of their genotype make it difficult to understand the true mechanisms beyond these ... See full document
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A case of acute Sheehan’s syndrome and literature review: a rare but life threatening complication of postpartum hemorrhage
... Sheehan’s syndrome is well known as a complication of PPH; this condition can present with chronic symptoms after a relatively long latent period, including failure to lactate, mild headache, fatigue, nausea, and ... See full document
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Case Report Concurrent bilateral testicular hamartomas and serous borderline tumors in a patient with complete androgen insensitivity syndrome: a case report and review of the literature
... Figure 2. Bilateral gonads. A. Low magnification field showed a multinodular testicular hamartoma. Hyalinizing degeneration was focally seen (H&E 40×). B. The nodules were mainly composed of compact Sertoli ... See full document
5
Capsular block syndrome: a case report and literature review
... OCT of the anterior segment is a well-known, noninvasive, diagnostic technique with resolutions that range from 2 to 20 microns and the capability of performing a fine evalu- ation of most of the anterior segment ... See full document
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Case – Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete AZFc Y chromosome microdeletion
... this case extremely unique. 10,11,12,13 This case also encourages further investigations to more clearly determine the relationship between Klinefelter syndrome and Y chromosome ... See full document
5
Fregoli syndrome in course of infection-related delirium. A case report
... According with all these findings, the consultant infec- tivologist made a diagnosis of acute pneumonia, and the patient underwent antibiotic treatment with ceftriaxone 2 g iv/day and clarithromycin 500 mg ... See full document
6
Marfan syndrome with acute abdomen: a case report
... The case was 28-year-old Turkish male, 40 kg in weight and 172 cm ...(Figure 2), and severe pes planus (talipes calcaneovalgus) (Figure 3) were found to be present in the physical ... See full document
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Common variant at 16p11 2 conferring risk of psychosis
... Two structural variants, a balanced t(1;11) translocation interrupting the DISC1 gene and a microdeletion at 22q11.2, were the first genetic polymorphisms to show compelling evidence of association with ... See full document
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Case Report Posterior reversible encephalopathy syndrome in a child with steroid-resistant nephrotic syndrome: a case report and review of literature
... encephalopathy syndrome, a rare disorder of central nervous system, was first described by Hinchey in 1996 ...a case of PRES in a 12-year-old girl with steroid-resistant nephrotic ... See full document
5
19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
... or microdeletion of NFIX in patients with Sotos-like overgrowth syndrome ...Marshall-Smith syndrome (MSS, ...Marshall-Smith syndrome (MSS) while NFIX deletions and nonsense mu- tations cause a ... See full document
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Familial inheritance of the 3q29 microdeletion syndrome: case report and review
... We report a case of the 3q29 microdeletion syndrome in a 3-year-old male with devel- opmental delay, which was found to be inherited from an otherwise healthy parent with a history of learning ... See full document
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