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A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature.
Charalsawadi C, Maisrikhaw W, Praphanphoj V, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Limprasert P. Charalsawadi C, et al. Cytogenet Genome Res. 2014;144(1):1-8. doi: 10.1159/000365909. Epub 2014 Aug 23. Cytogenet Genome Res. 2014. PMID: 25171325 Review.
A routine G-banding chromosome analysis was performed at a minimum of ISCN 400-550 bands. A chromosomal abnormality was observed in one child (0.5%), a 41-month-old boy with a ring chromosome 13 detected by G-banding analysis and subsequently confirmed …
A routine G-banding chromosome analysis was performed at a minimum of ISCN 400-550 bands. A chromosomal abnormality was observed in o …
Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13.
Ocak Z, Ozlu T, Vural M. Ocak Z, et al. Genet Couns. 2013;24(2):157-60. Genet Couns. 2013. PMID: 24032285
Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring chromosomes. Ring chromosome 13 is one of such disorders in which the genotype-phenotype correlation is stronger by vi …
Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring …
Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.
Morrissette JD, Celle L, Owens NL, Shields CL, Zackai EH, Spinner NB. Morrissette JD, et al. Am J Med Genet. 2001 Feb 15;99(1):21-8. doi: 10.1002/1096-8628(20010215)99:1<21::aid-ajmg1122>3.0.co;2-x. Am J Med Genet. 2001. PMID: 11170089
Nevertheless, this chromosome is stably transmitted in lymphocytes and fibroblasts. A single primary constriction was observed at band 13q21, consistent with activation of a latent centromere (neocentromere) at this band. ...
Nevertheless, this chromosome is stably transmitted in lymphocytes and fibroblasts. A single primary constriction was observed at ban …
Clinical features in a case with ring chromosome 13.
Parcheta B, Wisniewski L, Piontek E, Szymanska J, Skawinski W, Wermenski K. Parcheta B, et al. Eur J Pediatr. 1985 Nov;144(4):409-12. doi: 10.1007/BF00441791. Eur J Pediatr. 1985. PMID: 4076259
Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46,XY,r13 karyotype. The correlation between clinical features and the observed chromosome aberration is discussed. Hitherto unreported developmental brain anomalies with …
Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46,XY,r13 karyotype. The correlation …