Prenatal diagnosis of an extranumerary i(22p) with normal phenotype

L. Doneda, L. Dalpra, M. G. Tibiletti, L. Larizza

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

A DA-Dapi and AgNOR-negative extranumerary chromosome was identified prenatally in a male fetus and also found in his normal father. Fluorescence in situ hybridization using repetitive DNA probes showed that the minute marker was positive at both ends for beta-satellite sequences, while its centromere was recognized by a 22 alphoid probe. It is concluded that the nonmosaic familial marker represents a 22p isochromosome.

Original languageEnglish
Pages (from-to)154-158
Number of pages5
JournalAnnales de Genetique
Volume36
Issue number3
Publication statusPublished - 1993

Fingerprint

Isochromosomes
Centromere
DNA Probes
Prenatal Diagnosis
Fluorescence In Situ Hybridization
Fathers
Fetus
Chromosomes
Phenotype
nucleolar organizer region associated proteins

Keywords

  • chromosome 22
  • FISH
  • marker chromosome
  • repetitive probes

ASJC Scopus subject areas

  • Genetics

Cite this

Doneda, L., Dalpra, L., Tibiletti, M. G., & Larizza, L. (1993). Prenatal diagnosis of an extranumerary i(22p) with normal phenotype. Annales de Genetique, 36(3), 154-158.

Prenatal diagnosis of an extranumerary i(22p) with normal phenotype. / Doneda, L.; Dalpra, L.; Tibiletti, M. G.; Larizza, L.

In: Annales de Genetique, Vol. 36, No. 3, 1993, p. 154-158.

Research output: Contribution to journalArticle

Doneda, L, Dalpra, L, Tibiletti, MG & Larizza, L 1993, 'Prenatal diagnosis of an extranumerary i(22p) with normal phenotype', Annales de Genetique, vol. 36, no. 3, pp. 154-158.
Doneda, L. ; Dalpra, L. ; Tibiletti, M. G. ; Larizza, L. / Prenatal diagnosis of an extranumerary i(22p) with normal phenotype. In: Annales de Genetique. 1993 ; Vol. 36, No. 3. pp. 154-158.
@article{4ed2f16c0d324dd983da435e1c2a3580,
title = "Prenatal diagnosis of an extranumerary i(22p) with normal phenotype",
abstract = "A DA-Dapi and AgNOR-negative extranumerary chromosome was identified prenatally in a male fetus and also found in his normal father. Fluorescence in situ hybridization using repetitive DNA probes showed that the minute marker was positive at both ends for beta-satellite sequences, while its centromere was recognized by a 22 alphoid probe. It is concluded that the nonmosaic familial marker represents a 22p isochromosome.",
keywords = "chromosome 22, FISH, marker chromosome, repetitive probes",
author = "L. Doneda and L. Dalpra and Tibiletti, {M. G.} and L. Larizza",
year = "1993",
language = "English",
volume = "36",
pages = "154--158",
journal = "Annales de Genetique",
issn = "0003-3995",
publisher = "Elsevier BV",
number = "3",

}

TY - JOUR

T1 - Prenatal diagnosis of an extranumerary i(22p) with normal phenotype

AU - Doneda, L.

AU - Dalpra, L.

AU - Tibiletti, M. G.

AU - Larizza, L.

PY - 1993

Y1 - 1993

N2 - A DA-Dapi and AgNOR-negative extranumerary chromosome was identified prenatally in a male fetus and also found in his normal father. Fluorescence in situ hybridization using repetitive DNA probes showed that the minute marker was positive at both ends for beta-satellite sequences, while its centromere was recognized by a 22 alphoid probe. It is concluded that the nonmosaic familial marker represents a 22p isochromosome.

AB - A DA-Dapi and AgNOR-negative extranumerary chromosome was identified prenatally in a male fetus and also found in his normal father. Fluorescence in situ hybridization using repetitive DNA probes showed that the minute marker was positive at both ends for beta-satellite sequences, while its centromere was recognized by a 22 alphoid probe. It is concluded that the nonmosaic familial marker represents a 22p isochromosome.

KW - chromosome 22

KW - FISH

KW - marker chromosome

KW - repetitive probes

UR - http://www.scopus.com/inward/record.url?scp=0027141909&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027141909&partnerID=8YFLogxK

M3 - Article

C2 - 8117060

AN - SCOPUS:0027141909

VL - 36

SP - 154

EP - 158

JO - Annales de Genetique

JF - Annales de Genetique

SN - 0003-3995

IS - 3

ER -