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

Catherine Sarri; Sofia Douzgou; Yolanda Gyftodimou; Zeynep Tümer; Kirstine Ravn; Angela Pasparaki; Theologia Sarafidou; Harry Kontos; Haris Kokotas; Georgia Karadima; Maria Grigoriadou; Effie Pandelia; Virginia Theodorou; Nicholas K Moschonas; Michael B Petersen

doi:10.1002/ajmg.a.34259

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

Catherine Sarri, Sofia Douzgou, Yolanda Gyftodimou, Zeynep Tümer, Kirstine Ravn, Angela Pasparaki, Theologia Sarafidou, Harry Kontos, Haris Kokotas, Georgia Karadima, Maria Grigoriadou, Effie Pandelia, Virginia Theodorou, Nicholas K Moschonas, Michael B Petersen

Medical Genetics Program

9 Citations (Scopus)

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.

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	155A
Issue number	11
Pages (from-to)	2841-54
Number of pages	14
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.34259
Publication status	Published - Nov 2011

Keywords

Adolescent
Body Dysmorphic Disorders
Centromere
Chromosome Deletion
Chromosome Disorders
Chromosome Duplication
Chromosomes, Human, Pair 10
Chromosomes, Human, Y
Comparative Genomic Hybridization
Female
Follow-Up Studies
Humans
In Situ Hybridization, Fluorescence
Infant
Inheritance Patterns
Intellectual Disability
Nucleolus Organizer Region
Phenotype
Prenatal Diagnosis
Telomere
Translocation, Genetic

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10.1002/ajmg.a.34259

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Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K., & 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), 2841-54. https://doi.org/10.1002/ajmg.a.34259

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. / Sarri, Catherine; Douzgou, Sofia; Gyftodimou, Yolanda et al.

In: American Journal of Medical Genetics. Part A, Vol. 155A, No. 11, 11.2011, p. 2841-54.

Research output: Contribution to journal › Journal article › Research › peer-review

Sarri, C, Douzgou, S, Gyftodimou, Y, Tümer, Z, Ravn, K, Pasparaki, A, Sarafidou, T, Kontos, H, Kokotas, H, Karadima, G, Grigoriadou, M, Pandelia, E, Theodorou, V, Moschonas, NK & Petersen, MB 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, vol. 155A, no. 11, pp. 2841-54. https://doi.org/10.1002/ajmg.a.34259

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title = "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",

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.",

keywords = "Adolescent, Body Dysmorphic Disorders, Centromere, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 10, Chromosomes, Human, Y, Comparative Genomic Hybridization, Female, Follow-Up Studies, Humans, In Situ Hybridization, Fluorescence, Infant, Inheritance Patterns, Intellectual Disability, Nucleolus Organizer Region, Phenotype, Prenatal Diagnosis, Telomere, Translocation, Genetic",

author = "Catherine Sarri and Sofia Douzgou and Yolanda Gyftodimou and Zeynep T{\"u}mer and Kirstine Ravn and Angela Pasparaki and Theologia Sarafidou and Harry Kontos and Haris Kokotas and Georgia Karadima and Maria Grigoriadou and Effie Pandelia and Virginia Theodorou and Moschonas, {Nicholas K} and Petersen, {Michael B}",

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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

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

SN - 1552-4825

VL - 155A

SP - 2841

EP - 2854

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

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

Abstract

Keywords

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