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Quoted phrase not found in phrase index: "Kleefstra syndrome due to 9q34 microdeletion"
Page 1
TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
Atik T, Karaca E, Ozkinay E, Cogulu O. Atik T, et al. Genet Couns. 2015;26(4):431-5. Genet Couns. 2015. PMID: 26852514
It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndrome. We present 16-month-old twin sisters, one of whom had originally been referred for Down syndrome screening due to hypotonia, growth …
It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndr …
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
Guterman S, Hervé B, Rivière J, Fauvert D, Clement P, Vialard F. Guterman S, et al. J Obstet Gynaecol Res. 2018 Mar;44(3):570-575. doi: 10.1111/jog.13517. Epub 2017 Nov 21. J Obstet Gynaecol Res. 2018. PMID: 29160022 Review.
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome …
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial featur …
Kleefstra Syndrome: The First Case Report From Iran.
Noruzinia M, Ahmadvand M, Bashti O, Salehi Chaleshtori AR. Noruzinia M, et al. Acta Med Iran. 2017 Oct;55(10):650-654. Acta Med Iran. 2017. PMID: 29228531 Free article.
Because of blurriness in genotype-phenotype correlation through clinical and molecular features of both 9q34.3 microdeletion patients and those with an intragenic EHMT1 mutation in Kleefstra Syndrome, genetic characterization of patients with clinical …
Because of blurriness in genotype-phenotype correlation through clinical and molecular features of both 9q34.3 microdeletion p …
Multiple copy number variation in a patient with Kleefstra syndrome.
Lee TN, Rechetello HEL, Lima Júnior JBA, Cornelio JPFF, Pegoraro NB, Raskin S, Mikami LR. Lee TN, et al. Rev Paul Pediatr. 2023 Sep 15;42:e2022230. doi: 10.1590/1984-0462/2024/42/2022230. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 37729241 Free PMC article.
OBJECTIVE: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. ...The microarray-based comparative genomic hybridization (a-CGH) identified copy number var …
OBJECTIVE: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromos …
3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.
Chen CP, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W. Chen CP, et al. Gene. 2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Epub 2013 Sep 18. Gene. 2013. PMID: 24055486 Review.
We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal sc …
We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 m …
Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Campbell CL, Collins RT 2nd, Zarate YA. Campbell CL, et al. Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):985-90. doi: 10.1002/bdra.23324. Epub 2014 Nov 7. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25380126
BACKGROUND: Kleefstra syndrome arises from haploinsufficiency of EHMT1 caused by either microdeletions at 9q34.3 or intragenic mutations. ...METHODS: We report on the severe neonatal presentation of the first case of Kleefstra syndrome as …
BACKGROUND: Kleefstra syndrome arises from haploinsufficiency of EHMT1 caused by either microdeletions at 9q34.3 …
Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.
Huang LY, Yang Y, He P, Li DZ. Huang LY, et al. J Obstet Gynaecol. 2017 Apr;37(3):327-329. doi: 10.1080/01443615.2016.1245278. Epub 2016 Dec 14. J Obstet Gynaecol. 2017. PMID: 27966372
We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb …
We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased …
Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.
Verhoeven WM, Egger JI, Vermeulen K, van de Warrenburg BP, Kleefstra T. Verhoeven WM, et al. Am J Med Genet A. 2011 Oct;155A(10):2409-15. doi: 10.1002/ajmg.a.34186. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910222
Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS) is caused by haploinsufficiency of the EHMT1 gene. ...In two patients, the syndrome was caused by an intragenic mutation and in the third by a 9q34 microdeletion …
Kleefstra syndrome (KS), previously known as the 9q subtelomeric deletion syndrome (9qSTDS) is caused by haploinsufficiency of …
MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.
Stefekova A, Capkova P, Capkova Z, Curtisova V, Srovnal J, Mracka E, Klaskova E, Prochazka M. Stefekova A, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022 May;166(2):187-194. doi: 10.5507/bp.2021.019. Epub 2021 Mar 31. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022. PMID: 33824538 Free article.
METHODS: MLPA with probe mixes P070, P036 - Telomere 3 and 5, P245 - microdeletions, P250 - DiGeorge syndrome, and P311 - CHD (Congenital heart defects) was performed in 33 samples of amniotic fluid and chorionic villi. CMA was performed in 10 relevant cases. RESULTS: Path …
METHODS: MLPA with probe mixes P070, P036 - Telomere 3 and 5, P245 - microdeletions, P250 - DiGeorge syndrome, and P311 - CHD (Congen …
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