TY - JOUR

T1 - Complex distal 10q rearrangement in a girl with mild intellectual disability

T2 - 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

N1 - Copyright © 2011 Wiley Periodicals, Inc.

PY - 2011/11

Y1 - 2011/11

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.

AB - 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.

KW - Adolescent

KW - Body Dysmorphic Disorders

KW - Centromere

KW - Chromosome Deletion

KW - Chromosome Disorders

KW - Chromosome Duplication

KW - Chromosomes, Human, Pair 10

KW - Chromosomes, Human, Y

KW - Comparative Genomic Hybridization

KW - Female

KW - Follow-Up Studies

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Infant

KW - Inheritance Patterns

KW - Intellectual Disability

KW - Nucleolus Organizer Region

KW - Phenotype

KW - Prenatal Diagnosis

KW - Telomere

KW - Translocation, Genetic

U2 - 10.1002/ajmg.a.34259

DO - 10.1002/ajmg.a.34259

M3 - Journal article

C2 - 21964744

VL - 155A

SP - 2841

EP - 2854

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 11

ER -