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61 results

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Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
Lukusa T, Vermeesch JR, Holvoet M, Fryns JP, Devriendt K. Lukusa T, et al. Genet Couns. 2004;15(3):293-301. Genet Couns. 2004. PMID: 15517821
A number of studies have ascertained associations between autism and terminal 2q deletion with the breakpoint within 2q37. Here we describe a 12-year-old female patient with terminal 2q37.3 cryptic deletion and autistic behaviour. ...In order to more c …
A number of studies have ascertained associations between autism and terminal 2q deletion with the breakpoint within 2q37. Here we de …
2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
Giraldo-Ocampo S, Pachajoa H. Giraldo-Ocampo S, et al. BMC Pediatr. 2022 Oct 4;22(1):569. doi: 10.1186/s12887-022-03620-8. BMC Pediatr. 2022. PMID: 36192675 Free PMC article.
BACKGROUND: 2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytobands leading to developmental delay, intellectual disability, behavioral abnormalities and dysmorphic craniofacial features with more than 115 patients desc …
BACKGROUND: 2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytobands leading to …
2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.
Mehraein Y, Pfob M, Steinlein O, Aichinger E, Eggert M, Bubendorff V, Mannhart A, Müller S. Mehraein Y, et al. Cytogenet Genome Res. 2015;146(1):33-8. doi: 10.1159/000431389. Epub 2015 Jun 19. Cytogenet Genome Res. 2015. PMID: 26112830
2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright hereditary osteodystrophy (AHO) syndrome. ...Here, we report on 2 patients with 2q37.3 deletion syndrome. In both patien …
2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright h …
Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Iwata-Otsubo A, Darr KR, Torres-Martinez W, Hodge JC. Iwata-Otsubo A, et al. Cytogenet Genome Res. 2022;162(5):237-243. doi: 10.1159/000526660. Epub 2022 Dec 14. Cytogenet Genome Res. 2022. PMID: 36516793
To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassing HDAC4. Here, we present a 4-year-old African American male who carries …
To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical …
Terminal deletion 2q37.3 in a patient with Klippel-Trenaunay-Weber syndrome.
Puiu I, Stoica A, Sosoi S, Puiu A, Ioana M, Burada F. Puiu I, et al. Fetal Pediatr Pathol. 2013 Oct;32(5):351-6. doi: 10.3109/15513815.2013.768739. Epub 2013 Feb 25. Fetal Pediatr Pathol. 2013. PMID: 23438794
We identified by array CGH (Comparative Genomic Hybridization) a submicroscopic deletion 2q37.3 that could be related to impaired cognitive function. To our knowledge this is the first reported 2q37.3 microdeletion in a patient with KTWS....
We identified by array CGH (Comparative Genomic Hybridization) a submicroscopic deletion 2q37.3 that could be related t …
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.
Ogura K, Takeshita K, Arakawa C, Shimojima K, Yamamoto T. Ogura K, et al. Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):684-90. doi: 10.1002/ajmg.b.32274. Epub 2014 Oct 20. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 25329715
Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). ...Here, we report two male patients with 2q37.3 deletions. One of the patients showed a typical BDMR phenotype, and HDAC4 was included in the deletion regio …
Patients with 2q37 deletions manifest brachydactyly mental retardation syndrome (BDMR). ...Here, we report two male patients with …
Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion.
Lehman NL, Zaleski DH, Sanger WG, Adickes ED. Lehman NL, et al. Am J Med Genet. 2001 May 1;100(3):179-81. doi: 10.1002/ajmg.1245. Am J Med Genet. 2001. PMID: 11343300
Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1-->2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 …
Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1-->2q37.3 deletion. …
FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome.
Felder B, Radlwimmer B, Benner A, Mincheva A, Tödt G, Beyer KS, Schuster C, Bölte S, Schmötzer G, Klauck SM, Poustka F, Lichter P, Poustka A. Felder B, et al. Am J Med Genet A. 2009 May;149A(5):952-9. doi: 10.1002/ajmg.a.32779. Am J Med Genet A. 2009. PMID: 19365831
Our molecular cytogenetic studies, including array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH), define the extent of the de novo deletion to a 3.5 Mb region on 2q37.3. Although a number of reports of patients with 2q …
Our molecular cytogenetic studies, including array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH), d …
Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.
Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA. Smith M, et al. Cytogenet Cell Genet. 2001;94(1-2):15-22. doi: 10.1159/000048775. Cytogenet Cell Genet. 2001. PMID: 11701947
We also analyzed 2q37 mapped polymorphic markers. In addition DNA sequences of BACs in the deletion region were scanned to identify microsatellite repeats. We describe four new polymorphic microsatellite repeat markers in the 2q37.3 region. ...We review four …
We also analyzed 2q37 mapped polymorphic markers. In addition DNA sequences of BACs in the deletion region were scanned to identify m …
61 results