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Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.

auteur

A T Midro

Tatijana Zemunik

Piotr Iwanowski

gepubliceerd in: Molecular Cytogenetics

publicatiedatum: 2017-08-04

Cites articles 30

Date

Titel

Auteurs

2015-12-04

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

A T Midro, E Wiland, Maria M Sasiadek, Kurpisz M, Robert Smigiel, Jacek Pilch, Marcella Zollino, Piotr Iwanowski
2015-08-04

Wolf-Hirschhorn syndrome: A review and update
2015-04-09

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

Carmen Orellana, Sonia Mayo, Silvestre Oltra, Francisco Martinez, Sandra Monfort
2014-10-16

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

A T Midro, Marta Olszewska, E Wiland, Kurpisz M, Marzena Gajecka
2013-07-29

Pure duplication of 19p13.3.
2011-10-01

Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.
2011-08-03

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?

Josiane Souza, Vanessa Sotomaior
2011-07-08

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

A T Midro, Serena Lattante, Marcella Zollino, Piotr Iwanowski, Lech Korniszewski
2010-10-08

19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development
2009-01-21

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

Vidar M Steen
2009-08-01

Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review.
2008-11-01

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review

Vanna Pecile, Laura Mazzanti
2008-09-16

Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors

Robert Resta
2008-11-01

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision
2007-09-14

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Bernard Thienpont
2007-01-01

Translocation form of Wolf-Hirschhorn syndrome --assessment of recurrence rate probability
2006-02-01

Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa

A T Midro, E Wiland, Kurpisz M
2005-07-01

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.
2005-01-01

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

Antonio Novelli, Bruno Dallapiccola
2004-02-01

Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes.
2002-10-01

Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly
2001-10-01

An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality
2000-12-01

Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL.

Roland Eils
2000-08-01

Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)

A T Midro, Michael R Speicher
1999-01-01

[Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)]
1998-10-01

A physical map of 30,000 human genes

Panos Deloukas, Sarah E Hunt, Eric Lander, Lincoln Stein, James I Hudson
1995-07-01

Interstitial duplication 19p.
1994-02-01

Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: experiences with dysmorphic syndromes.
1991-12-01

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4

James F. Gusella
1981-01-01

[A case of trisomy 19 mosaicism (author's transl)]

Artike - wd:Q38635880

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