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Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.
Eur J Med Genet 2005 Apr-Jun; 48(2):167-74EJ

Abstract

We describe a patient in whom full monosomy 21 was initially assumed from routine GTG-banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 18 and 21. Fluorescence in situ hybridisation (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q21) and 18(q22-qter). The patient, 18 years old at the second examination, revealed multiple dysmorphic features, genital hypoplasia, dilated cerebral ventricles, muscular hypotonia and severe mental retardation. In not one out of all patients investigated postnatally in whom an initial examination had revealed monosomy 21, this could be confirmed by FISH; in all of them, re-examination detected an unbalanced rearrangement leading to only partial monosomy 21 plus partial monosomy of another chromosome to which the distal 21q segment was attached. Thus, it is still highly likely that full monosomy 21 is incompatible with intra-uterine survival.

Authors+Show Affiliations

Institute of Medical Genetics of the University of Zurich, Schwerzenbach, Switzerland. riegel@medgen.unizh.chNo 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

16053908

Citation

Riegel, M, et al. "Unbalanced 18q/21q Translocation in a Patient Previously Reported as Monosomy 21." European Journal of Medical Genetics, vol. 48, no. 2, 2005, pp. 167-74.
Riegel M, Hargreaves P, Baumer A, et al. Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. Eur J Med Genet. 2005;48(2):167-74.
Riegel, M., Hargreaves, P., Baumer, A., Guc-Scekic, M., Ignjatovic, M., & Schinzel, A. (2005). Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. European Journal of Medical Genetics, 48(2), pp. 167-74.
Riegel M, et al. Unbalanced 18q/21q Translocation in a Patient Previously Reported as Monosomy 21. Eur J Med Genet. 2005;48(2):167-74. PubMed PMID: 16053908.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21. AU - Riegel,M, AU - Hargreaves,P, AU - Baumer,A, AU - Guc-Scekic,M, AU - Ignjatovic,M, AU - Schinzel,A, Y1 - 2005/02/17/ PY - 2004/11/22/received PY - 2005/8/2/pubmed PY - 2005/9/16/medline PY - 2005/8/2/entrez SP - 167 EP - 74 JF - European journal of medical genetics JO - Eur J Med Genet VL - 48 IS - 2 N2 - We describe a patient in whom full monosomy 21 was initially assumed from routine GTG-banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 18 and 21. Fluorescence in situ hybridisation (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q21) and 18(q22-qter). The patient, 18 years old at the second examination, revealed multiple dysmorphic features, genital hypoplasia, dilated cerebral ventricles, muscular hypotonia and severe mental retardation. In not one out of all patients investigated postnatally in whom an initial examination had revealed monosomy 21, this could be confirmed by FISH; in all of them, re-examination detected an unbalanced rearrangement leading to only partial monosomy 21 plus partial monosomy of another chromosome to which the distal 21q segment was attached. Thus, it is still highly likely that full monosomy 21 is incompatible with intra-uterine survival. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/16053908/Unbalanced_18q/21q_translocation_in_a_patient_previously_reported_as_monosomy_21_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(05)00032-7 DB - PRIME DP - Unbound Medicine ER -