Ring 21 chromosome and a satellited 1p in the same patient

Novel origin for an ectopic NOR

Anita Ki, Katherine A. Rauen, Lauri D. Black, Dana R. Kostiner, Per L. Sandberg, Daniel Pinkel, Donna Albertson, Mary E. Norton, Philip D. Cotter

Research output: Contribution to journalArticle

Abstract

Nucleolus organizer regions (NORs) are present on the satellite stalks located on the short arms of the acrocentric chromosomes. NORs present on non-acrocentric chromosomes (ectopic NORs) are rare and were reported in both phenotypically normal and abnormal individuals. We describe a patient, ascertained prenatally, with an ectopic NOR on 1p and a ring 21 chromosomes. Amniocentesis was performed at 27-weeks gestation on a 19-year-old woman after identification of intrauterine growth retardation (IUGR) by ultrasound. Cytogenetic analysis of amniocytes from the fetus showed a mos 46,XX,1ps,r(21) (p11.2q22.3)[44]/45, XX,1ps,-21[6] karyotype. Parental karyotypes were normal, indicating a de novo origin for these rearrangements in the fetus. Molecular cytogenetic characterization of the 1ps showed no loss of euchromatin and retention of the telomeric repeats. Characterization of the r(21) using array comparative genomic hybridization (CGH) identified that the deletion was approximately 5 Mb encompassing most of chromosome band 21q22.3. The ectopic NOR (1ps) was most likely derived from the acentric 21p fragment generated by the chromosome breakage event that lead to formation of the r(21) chromosome. This represents a novel mechanism for the origin of ectopic NORs. In addition, this study illustrates the importance of FISH analysis with telomeric and subtelomeric probes for characterization of chromosomes with ectopic NORs.

Original languageEnglish (US)
Pages (from-to)365-369
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume120 A
Issue number3
StatePublished - Jul 30 2003

Fingerprint

Nucleolus Organizer Region
Chromosomes
Karyotype
Fetus
Euchromatin
Chromosome Breakage
Chromosomes, Human, Pair 21
Comparative Genomic Hybridization
Amniocentesis
Fetal Growth Retardation
Cytogenetic Analysis
Chromosome 21 ring
Cytogenetics
Pregnancy

Keywords

  • Array comparative genomic hybridization
  • Chromosome 1
  • Chromosome 21
  • Ectopic nucleolus organizer region
  • Fluorescence in situ hybridization
  • Ring chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Ki, A., Rauen, K. A., Black, L. D., Kostiner, D. R., Sandberg, P. L., Pinkel, D., ... Cotter, P. D. (2003). Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR. American Journal of Medical Genetics, 120 A(3), 365-369.

Ring 21 chromosome and a satellited 1p in the same patient : Novel origin for an ectopic NOR. / Ki, Anita; Rauen, Katherine A.; Black, Lauri D.; Kostiner, Dana R.; Sandberg, Per L.; Pinkel, Daniel; Albertson, Donna; Norton, Mary E.; Cotter, Philip D.

In: American Journal of Medical Genetics, Vol. 120 A, No. 3, 30.07.2003, p. 365-369.

Research output: Contribution to journalArticle

Ki, A, Rauen, KA, Black, LD, Kostiner, DR, Sandberg, PL, Pinkel, D, Albertson, D, Norton, ME & Cotter, PD 2003, 'Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR', American Journal of Medical Genetics, vol. 120 A, no. 3, pp. 365-369.
Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D et al. Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR. American Journal of Medical Genetics. 2003 Jul 30;120 A(3):365-369.
Ki, Anita ; Rauen, Katherine A. ; Black, Lauri D. ; Kostiner, Dana R. ; Sandberg, Per L. ; Pinkel, Daniel ; Albertson, Donna ; Norton, Mary E. ; Cotter, Philip D. / Ring 21 chromosome and a satellited 1p in the same patient : Novel origin for an ectopic NOR. In: American Journal of Medical Genetics. 2003 ; Vol. 120 A, No. 3. pp. 365-369.
@article{b001156bd8224f0a9cbadcbb44e16f66,
title = "Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR",
abstract = "Nucleolus organizer regions (NORs) are present on the satellite stalks located on the short arms of the acrocentric chromosomes. NORs present on non-acrocentric chromosomes (ectopic NORs) are rare and were reported in both phenotypically normal and abnormal individuals. We describe a patient, ascertained prenatally, with an ectopic NOR on 1p and a ring 21 chromosomes. Amniocentesis was performed at 27-weeks gestation on a 19-year-old woman after identification of intrauterine growth retardation (IUGR) by ultrasound. Cytogenetic analysis of amniocytes from the fetus showed a mos 46,XX,1ps,r(21) (p11.2q22.3)[44]/45, XX,1ps,-21[6] karyotype. Parental karyotypes were normal, indicating a de novo origin for these rearrangements in the fetus. Molecular cytogenetic characterization of the 1ps showed no loss of euchromatin and retention of the telomeric repeats. Characterization of the r(21) using array comparative genomic hybridization (CGH) identified that the deletion was approximately 5 Mb encompassing most of chromosome band 21q22.3. The ectopic NOR (1ps) was most likely derived from the acentric 21p fragment generated by the chromosome breakage event that lead to formation of the r(21) chromosome. This represents a novel mechanism for the origin of ectopic NORs. In addition, this study illustrates the importance of FISH analysis with telomeric and subtelomeric probes for characterization of chromosomes with ectopic NORs.",
keywords = "Array comparative genomic hybridization, Chromosome 1, Chromosome 21, Ectopic nucleolus organizer region, Fluorescence in situ hybridization, Ring chromosome",
author = "Anita Ki and Rauen, {Katherine A.} and Black, {Lauri D.} and Kostiner, {Dana R.} and Sandberg, {Per L.} and Daniel Pinkel and Donna Albertson and Norton, {Mary E.} and Cotter, {Philip D.}",
year = "2003",
month = "7",
day = "30",
language = "English (US)",
volume = "120 A",
pages = "365--369",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Ring 21 chromosome and a satellited 1p in the same patient

T2 - Novel origin for an ectopic NOR

AU - Ki, Anita

AU - Rauen, Katherine A.

AU - Black, Lauri D.

AU - Kostiner, Dana R.

AU - Sandberg, Per L.

AU - Pinkel, Daniel

AU - Albertson, Donna

AU - Norton, Mary E.

AU - Cotter, Philip D.

PY - 2003/7/30

Y1 - 2003/7/30

N2 - Nucleolus organizer regions (NORs) are present on the satellite stalks located on the short arms of the acrocentric chromosomes. NORs present on non-acrocentric chromosomes (ectopic NORs) are rare and were reported in both phenotypically normal and abnormal individuals. We describe a patient, ascertained prenatally, with an ectopic NOR on 1p and a ring 21 chromosomes. Amniocentesis was performed at 27-weeks gestation on a 19-year-old woman after identification of intrauterine growth retardation (IUGR) by ultrasound. Cytogenetic analysis of amniocytes from the fetus showed a mos 46,XX,1ps,r(21) (p11.2q22.3)[44]/45, XX,1ps,-21[6] karyotype. Parental karyotypes were normal, indicating a de novo origin for these rearrangements in the fetus. Molecular cytogenetic characterization of the 1ps showed no loss of euchromatin and retention of the telomeric repeats. Characterization of the r(21) using array comparative genomic hybridization (CGH) identified that the deletion was approximately 5 Mb encompassing most of chromosome band 21q22.3. The ectopic NOR (1ps) was most likely derived from the acentric 21p fragment generated by the chromosome breakage event that lead to formation of the r(21) chromosome. This represents a novel mechanism for the origin of ectopic NORs. In addition, this study illustrates the importance of FISH analysis with telomeric and subtelomeric probes for characterization of chromosomes with ectopic NORs.

AB - Nucleolus organizer regions (NORs) are present on the satellite stalks located on the short arms of the acrocentric chromosomes. NORs present on non-acrocentric chromosomes (ectopic NORs) are rare and were reported in both phenotypically normal and abnormal individuals. We describe a patient, ascertained prenatally, with an ectopic NOR on 1p and a ring 21 chromosomes. Amniocentesis was performed at 27-weeks gestation on a 19-year-old woman after identification of intrauterine growth retardation (IUGR) by ultrasound. Cytogenetic analysis of amniocytes from the fetus showed a mos 46,XX,1ps,r(21) (p11.2q22.3)[44]/45, XX,1ps,-21[6] karyotype. Parental karyotypes were normal, indicating a de novo origin for these rearrangements in the fetus. Molecular cytogenetic characterization of the 1ps showed no loss of euchromatin and retention of the telomeric repeats. Characterization of the r(21) using array comparative genomic hybridization (CGH) identified that the deletion was approximately 5 Mb encompassing most of chromosome band 21q22.3. The ectopic NOR (1ps) was most likely derived from the acentric 21p fragment generated by the chromosome breakage event that lead to formation of the r(21) chromosome. This represents a novel mechanism for the origin of ectopic NORs. In addition, this study illustrates the importance of FISH analysis with telomeric and subtelomeric probes for characterization of chromosomes with ectopic NORs.

KW - Array comparative genomic hybridization

KW - Chromosome 1

KW - Chromosome 21

KW - Ectopic nucleolus organizer region

KW - Fluorescence in situ hybridization

KW - Ring chromosome

UR - http://www.scopus.com/inward/record.url?scp=0041823216&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0041823216&partnerID=8YFLogxK

M3 - Article

VL - 120 A

SP - 365

EP - 369

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -