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Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter.
Am J Med Genet A. 2010 Mar; 152A(3):721-5.AJ

Abstract

Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents.

Authors+Show Affiliations

Department of Obstetrics and Fetal Medicine, University Medical Center Mainz, Mainz, Germany. tchirikov@uni-mainz.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20186810

Citation

Tchirikov, M, et al. "Prenatal Diagnosis of a Recombinant Chromosome 7 Resulting in Trisomy 7q11.22 --> Qter." American Journal of Medical Genetics. Part A, vol. 152A, no. 3, 2010, pp. 721-5.
Tchirikov M, Merinsky A, Strohner M, et al. Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. Am J Med Genet A. 2010;152A(3):721-5.
Tchirikov, M., Merinsky, A., Strohner, M., Bonin, M., Beyer, V., Haaf, T., & Bartsch, O. (2010). Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. American Journal of Medical Genetics. Part A, 152A(3), 721-5. https://doi.org/10.1002/ajmg.a.33238
Tchirikov M, et al. Prenatal Diagnosis of a Recombinant Chromosome 7 Resulting in Trisomy 7q11.22 --> Qter. Am J Med Genet A. 2010;152A(3):721-5. PubMed PMID: 20186810.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. AU - Tchirikov,M, AU - Merinsky,A, AU - Strohner,M, AU - Bonin,M, AU - Beyer,V, AU - Haaf,T, AU - Bartsch,O, PY - 2010/2/27/entrez PY - 2010/2/27/pubmed PY - 2010/4/13/medline SP - 721 EP - 5 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 152A IS - 3 N2 - Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/20186810/Prenatal_diagnosis_of_a_recombinant_chromosome_7_resulting_in_trisomy_7q11_22___>_qter_ L2 - https://doi.org/10.1002/ajmg.a.33238 DB - PRIME DP - Unbound Medicine ER -