A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes - PubMed (original) (raw)
A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes
J A Crolla et al. Am J Med Genet. 1997.
Abstract
In a cytogenetic, molecular, and clinical study of patients with autosomal supernumerary marker chromosomes (SMC), 6 out of 72 (8.3%) were shown by fluorescence in situ hybridisation (FISH) to be derived from chromosome 22. PCR microsatellite analysis and FISH using primers and cosmids from proximal 22q showed 3 of the 6 to contain euchromatin. The first, a de novo nonmosaic bisatellited, dicentric SMC, was acsertained in a patient with cat eye syndrome and Duane anomaly. Microsatellite analysis showed the SMC was maternal in origin with euchromatin extending to D22S427, i.e., proximal to the DiGeorge syndrome critical region (DGSCR). The second, a nonmosaic bisatellited, dicentric marker, was found in a child with severe hypotonia and developmental delay and had been inherited from the patient's phenotypically normal father. FISH showed the SMC to contain euchromatin extending into the DGSCR. The third, a de novo SMC, was ascertained antenatally and was shown to contain 22q euchromatin extending distal to the DGSCR. The 19-week terminated fetus was phenotypically normal at autopsy. Two of the three SMC(22)s not containing detectable proximal 22q euchromatin were ascertained coincidentally in phenotypically normal individuals, whereas the third, the only mosaic with a minority euploid cell line, was found in a patient with mild developmental delay. These results suggest that SMC(22)s devoid of proximal 22q euchromatin are not associated with adverse phenotypic effects whereas SMC(22)s containing euchromatin may be found in individuals with phenotypes ranging from cat eye syndrome to normal.
Similar articles
- FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases.
Crolla JA, Long F, Rivera H, Dennis NR. Crolla JA, et al. Am J Med Genet. 1998 Feb 3;75(4):355-66. doi: 10.1002/(sici)1096-8628(19980203)75:4<355::aid-ajmg4>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9482641 - FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22).
Bartsch O, Rasi S, Hoffmann K, Blin N. Bartsch O, et al. Eur J Hum Genet. 2005 May;13(5):592-8. doi: 10.1038/sj.ejhg.5201378. Eur J Hum Genet. 2005. PMID: 15756300 - Prenatal diagnosis of minute supernumerary marker chromosomes.
Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ, Norton ME. Cotter PD, et al. Gynecol Obstet Invest. 2005;60(1):27-38. doi: 10.1159/000083482. Epub 2005 Jan 24. Gynecol Obstet Invest. 2005. PMID: 15689640 - SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markers.
Reddy KS, Wang S, Groh S, Gonatos J. Reddy KS, et al. Am J Med Genet A. 2003 Apr 15;118A(2):156-71. doi: 10.1002/ajmg.a.10045. Am J Med Genet A. 2003. PMID: 12655496 Review.
Cited by
- Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.
Lu Y, Liang Y, Ning S, Deng G, Xie Y, Song J, Zuo N, Feng C, Qin Y. Lu Y, et al. Mol Cytogenet. 2020 Jun 10;13:21. doi: 10.1186/s13039-020-00489-z. eCollection 2020. Mol Cytogenet. 2020. PMID: 32536972 Free PMC article. - Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.
Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ. Li H, et al. Mol Cytogenet. 2018 Feb 5;11:15. doi: 10.1186/s13039-018-0365-5. eCollection 2018. Mol Cytogenet. 2018. PMID: 29441129 Free PMC article. - Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.
Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB. Hurd LM, et al. Am J Med Genet A. 2017 Dec;173(12):3205-3210. doi: 10.1002/ajmg.a.38498. Epub 2017 Oct 28. Am J Med Genet A. 2017. PMID: 29080333 Free PMC article. - Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report.
Vahidi Mehrjardi MY, Dehghan Tezerjani M, Nori-Shadkam M, Kalantar SM, Dehghani M. Vahidi Mehrjardi MY, et al. Iran J Public Health. 2016 Mar;45(3):376-80. Iran J Public Health. 2016. PMID: 27141501 Free PMC article. - Update and Review: Supernumerary Marker Chromosomes.
Ungerleider S. Ungerleider S. J Genet Couns. 2000 Aug;9(4):347-58. doi: 10.1023/A:1009458230654. J Genet Couns. 2000. PMID: 26141476
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Miscellaneous