Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Barbara J. Trask, Heather Mefford, Ger Van Den Engh, Hillary F. Massa, Ramesh C. Juyal, Lorraine Potocki, Brenda Finucane, Dianne N. Abuelo, David R. Witt, Ellen Magenis, Antonio Baldini, Frank Greenberg, James R. Lupski, Pragna I. Patel

Research output: Contribution to journalArticle

42 Citations (Scopus)

Abstract

We have used bivariate flow karyotyping to quantify the deletions involving chromosome 17 in sixteen patients with Smith-Magenis syndrome (SMS). The fluorescence intensities of mitotic chromosomes stained with Hoechst 33258 and chromomycin were quantified in a dual-beam flow cytometer. For each patient, the position of the peak representing the deleted chromosome 17 was compared to those of the normal homologs of an unaffected parent. The patients could be classified into four groups based on the size of their deletions. The deletions ranged from ~ 9-10 Mb (~ 10-11% of the chromosome) to below the detection limit of the technique (2 Mb). Different deletion sizes were detected among patients whose high-resolution banding results were similar. Some deletions detected by banding were not detected by flow analyses. Deletion estimates are largely consistent with the results of molecular analyses. Patients with larger deletions that extend into band 17p12 have abnormal electrophysiologic studies of peripheral nerves. Deletion size does not appear to correlate with the degree of mental retardation, presence of behavioral abnormalities, craniofacial anomalies or common skeletal findings in SMS. By identifying patients with varying deletion sizes, these data will aid the construction of a long-range deletion-based map of 17p11.2 and identification of the genes involved in this syndrome.

Original languageEnglish
Pages (from-to)710-718
Number of pages9
JournalHuman Genetics
Volume98
Issue number6
DOIs
Publication statusPublished - Dec 1996

Fingerprint

Smith-Magenis Syndrome
Flow Cytometry
Chromomycins
Craniofacial Abnormalities
Bisbenzimidazole
Karyotyping
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Peripheral Nerves
Intellectual Disability
Limit of Detection
Chromosome 17 deletion
Chromosomes
Fluorescence

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Trask, B. J., Mefford, H., Van Den Engh, G., Massa, H. F., Juyal, R. C., Potocki, L., ... Patel, P. I. (1996). Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Human Genetics, 98(6), 710-718. https://doi.org/10.1007/s004390050291

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. / Trask, Barbara J.; Mefford, Heather; Van Den Engh, Ger; Massa, Hillary F.; Juyal, Ramesh C.; Potocki, Lorraine; Finucane, Brenda; Abuelo, Dianne N.; Witt, David R.; Magenis, Ellen; Baldini, Antonio; Greenberg, Frank; Lupski, James R.; Patel, Pragna I.

In: Human Genetics, Vol. 98, No. 6, 12.1996, p. 710-718.

Research output: Contribution to journalArticle

Trask, BJ, Mefford, H, Van Den Engh, G, Massa, HF, Juyal, RC, Potocki, L, Finucane, B, Abuelo, DN, Witt, DR, Magenis, E, Baldini, A, Greenberg, F, Lupski, JR & Patel, PI 1996, 'Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients', Human Genetics, vol. 98, no. 6, pp. 710-718. https://doi.org/10.1007/s004390050291
Trask BJ, Mefford H, Van Den Engh G, Massa HF, Juyal RC, Potocki L et al. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Human Genetics. 1996 Dec;98(6):710-718. https://doi.org/10.1007/s004390050291
Trask, Barbara J. ; Mefford, Heather ; Van Den Engh, Ger ; Massa, Hillary F. ; Juyal, Ramesh C. ; Potocki, Lorraine ; Finucane, Brenda ; Abuelo, Dianne N. ; Witt, David R. ; Magenis, Ellen ; Baldini, Antonio ; Greenberg, Frank ; Lupski, James R. ; Patel, Pragna I. / Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. In: Human Genetics. 1996 ; Vol. 98, No. 6. pp. 710-718.
@article{fe77b9e2c93b4296bede3014e73f1ea1,
title = "Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients",
abstract = "We have used bivariate flow karyotyping to quantify the deletions involving chromosome 17 in sixteen patients with Smith-Magenis syndrome (SMS). The fluorescence intensities of mitotic chromosomes stained with Hoechst 33258 and chromomycin were quantified in a dual-beam flow cytometer. For each patient, the position of the peak representing the deleted chromosome 17 was compared to those of the normal homologs of an unaffected parent. The patients could be classified into four groups based on the size of their deletions. The deletions ranged from ~ 9-10 Mb (~ 10-11{\%} of the chromosome) to below the detection limit of the technique (2 Mb). Different deletion sizes were detected among patients whose high-resolution banding results were similar. Some deletions detected by banding were not detected by flow analyses. Deletion estimates are largely consistent with the results of molecular analyses. Patients with larger deletions that extend into band 17p12 have abnormal electrophysiologic studies of peripheral nerves. Deletion size does not appear to correlate with the degree of mental retardation, presence of behavioral abnormalities, craniofacial anomalies or common skeletal findings in SMS. By identifying patients with varying deletion sizes, these data will aid the construction of a long-range deletion-based map of 17p11.2 and identification of the genes involved in this syndrome.",
author = "Trask, {Barbara J.} and Heather Mefford and {Van Den Engh}, Ger and Massa, {Hillary F.} and Juyal, {Ramesh C.} and Lorraine Potocki and Brenda Finucane and Abuelo, {Dianne N.} and Witt, {David R.} and Ellen Magenis and Antonio Baldini and Frank Greenberg and Lupski, {James R.} and Patel, {Pragna I.}",
year = "1996",
month = "12",
doi = "10.1007/s004390050291",
language = "English",
volume = "98",
pages = "710--718",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "6",

}

TY - JOUR

T1 - Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

AU - Trask, Barbara J.

AU - Mefford, Heather

AU - Van Den Engh, Ger

AU - Massa, Hillary F.

AU - Juyal, Ramesh C.

AU - Potocki, Lorraine

AU - Finucane, Brenda

AU - Abuelo, Dianne N.

AU - Witt, David R.

AU - Magenis, Ellen

AU - Baldini, Antonio

AU - Greenberg, Frank

AU - Lupski, James R.

AU - Patel, Pragna I.

PY - 1996/12

Y1 - 1996/12

N2 - We have used bivariate flow karyotyping to quantify the deletions involving chromosome 17 in sixteen patients with Smith-Magenis syndrome (SMS). The fluorescence intensities of mitotic chromosomes stained with Hoechst 33258 and chromomycin were quantified in a dual-beam flow cytometer. For each patient, the position of the peak representing the deleted chromosome 17 was compared to those of the normal homologs of an unaffected parent. The patients could be classified into four groups based on the size of their deletions. The deletions ranged from ~ 9-10 Mb (~ 10-11% of the chromosome) to below the detection limit of the technique (2 Mb). Different deletion sizes were detected among patients whose high-resolution banding results were similar. Some deletions detected by banding were not detected by flow analyses. Deletion estimates are largely consistent with the results of molecular analyses. Patients with larger deletions that extend into band 17p12 have abnormal electrophysiologic studies of peripheral nerves. Deletion size does not appear to correlate with the degree of mental retardation, presence of behavioral abnormalities, craniofacial anomalies or common skeletal findings in SMS. By identifying patients with varying deletion sizes, these data will aid the construction of a long-range deletion-based map of 17p11.2 and identification of the genes involved in this syndrome.

AB - We have used bivariate flow karyotyping to quantify the deletions involving chromosome 17 in sixteen patients with Smith-Magenis syndrome (SMS). The fluorescence intensities of mitotic chromosomes stained with Hoechst 33258 and chromomycin were quantified in a dual-beam flow cytometer. For each patient, the position of the peak representing the deleted chromosome 17 was compared to those of the normal homologs of an unaffected parent. The patients could be classified into four groups based on the size of their deletions. The deletions ranged from ~ 9-10 Mb (~ 10-11% of the chromosome) to below the detection limit of the technique (2 Mb). Different deletion sizes were detected among patients whose high-resolution banding results were similar. Some deletions detected by banding were not detected by flow analyses. Deletion estimates are largely consistent with the results of molecular analyses. Patients with larger deletions that extend into band 17p12 have abnormal electrophysiologic studies of peripheral nerves. Deletion size does not appear to correlate with the degree of mental retardation, presence of behavioral abnormalities, craniofacial anomalies or common skeletal findings in SMS. By identifying patients with varying deletion sizes, these data will aid the construction of a long-range deletion-based map of 17p11.2 and identification of the genes involved in this syndrome.

UR - http://www.scopus.com/inward/record.url?scp=10544246897&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10544246897&partnerID=8YFLogxK

U2 - 10.1007/s004390050291

DO - 10.1007/s004390050291

M3 - Article

VL - 98

SP - 710

EP - 718

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 6

ER -