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Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
Am J Med Genet A 2011; 155A(11):2841-54AJ

Abstract

We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11-q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes.

Authors+Show Affiliations

Department of Genetics, Institute of Child Health, Athens, Greece. csarri@ich.grNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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
Review

Language

eng

PubMed ID

21964744

Citation

Sarri, Catherine, et al. "Complex Distal 10q Rearrangement in a Girl With Mild Intellectual Disability: Follow Up of the Patient and Review of the Literature of Non-acrocentric Satellited Chromosomes." American Journal of Medical Genetics. Part A, vol. 155A, no. 11, 2011, pp. 2841-54.
Sarri C, Douzgou S, Gyftodimou Y, et al. Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes. Am J Med Genet A. 2011;155A(11):2841-54.
Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., ... Petersen, M. B. (2011). Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes. American Journal of Medical Genetics. Part A, 155A(11), pp. 2841-54. doi:10.1002/ajmg.a.34259.
Sarri C, et al. Complex Distal 10q Rearrangement in a Girl With Mild Intellectual Disability: Follow Up of the Patient and Review of the Literature of Non-acrocentric Satellited Chromosomes. Am J Med Genet A. 2011;155A(11):2841-54. PubMed PMID: 21964744.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes. AU - Sarri,Catherine, AU - Douzgou,Sofia, AU - Gyftodimou,Yolanda, AU - Tümer,Zeynep, AU - Ravn,Kirstine, AU - Pasparaki,Angela, AU - Sarafidou,Theologia, AU - Kontos,Harry, AU - Kokotas,Haris, AU - Karadima,Georgia, AU - Grigoriadou,Maria, AU - Pandelia,Effie, AU - Theodorou,Virginia, AU - Moschonas,Nicholas K, AU - Petersen,Michael B, Y1 - 2011/09/30/ PY - 2011/02/08/received PY - 2011/07/17/accepted PY - 2011/10/4/entrez PY - 2011/10/4/pubmed PY - 2012/2/10/medline SP - 2841 EP - 54 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 155A IS - 11 N2 - We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11-q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/21964744/Complex_distal_10q_rearrangement_in_a_girl_with_mild_intellectual_disability:_follow_up_of_the_patient_and_review_of_the_literature_of_non_acrocentric_satellited_chromosomes_ L2 - https://doi.org/10.1002/ajmg.a.34259 DB - PRIME DP - Unbound Medicine ER -