Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis-Reference-Cited by-同舟云学术

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Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

Published:2004-02-11 Issue:2 Volume:127A Page:144-148
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Guanciali-Franchi Paolo,Calabrese Giuseppe,Morizio Elisena,Fantasia Donatella,Colosimo Alessia,Rinaldi Maria M.,Cristini Luciano,Simonelli Andrea,Lonardo Fortunato,Turci Alessandra,Zatterale Adriana,Laganà Carmelo,Stuppia Liborio,Sabatino Giuseppe,Palka Giandomenico

Funder

MIUR, Italy

G. CALABRESE

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.20691/fullpdf

Reference26 articles.

1. Phenotype of a patient with pure partial trisomy 2p(p23 → pter);Al-Saffar;Am J Med Genet,2000

2. De novo duplication of 12pter → p12.1: Clinical and cytogenetic diagnosis confirmed by chromosome painting;Back;Clin Genet,1997

3. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level;Barber;Hum Genet,1999

4. A 10-year survey, 1980-1990, of prenatally diagnosed small and supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples;Brondum-Nielsen;Prenat Diagn,1995

5. Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis;Calabrese;Ann Genet,1994

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1. Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report;Molecular Cytogenetics;2022-03-26

2. Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis;Genetic Disorders and the Fetus;2021-04-20

3. Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9;Taiwanese Journal of Obstetrics and Gynecology;2017-08

4. Targeted prenatal diagnosis of Pallister-Killian syndrome;Prenatal Diagnosis;2017-03-27

5. Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis;Genetic Disorders and the Fetus;2015-11-23

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