Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study

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

Zollino M
Murdolo M
Marangi G
Pecile V
Galasso C
Neri G.
MAZZANTI, LAURA

January 2008

Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as w...

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Berg, K. ten
Hasselt, P.M. van
Eleveld, M.J.
Wijst, S.E. van der
Hol, F.A.
Vroede, M.A. de
Beemer, F.A.
Hochstenbach, P.F.R.
Poot, M.

January 2007

The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental reta...

Wolf-Hirschhorn syndrome presenting with cardiac manifestations at birth

Sudhir D Malwade
Sharad Agarkhedkar
Swapnil

January 2016

Wolf–Hirschhorn syndrome (WHS) is a condition of developmental delay and dysmorphology caused by a d...

Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study

Pokale, Yamini S.
Jadhav, Ajinkya M.
Kate, Ushang

August 2012

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic ...

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Zollino, Marcella (ORCID:0000-0003-4871-9519)
Di Stefano, C
Zampino, Giuseppe (ORCID:0000-0003-3865-3253)
Mastroiacovo, Pierpaolo
Wright, Tj
Sorge, G
Selicorni, A
Tenconi, Romano
Zappalà, A
Battaglia, Alessandra
Di Rocco, M
Palka, G
Pallotta, R
Altherr, Mr
Neri, Giovanni

January 2000

We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of...

Hindawi Publishing Corporation Case Reports in Genetics

Article Id

August 2016

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

Wieczorek, D.
Krause, M.
Majewski, F.
Albrecht, B.
Horn, D.
Riess, O.
Gillessen-Kaesbach, G.

July 2000

We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5 males, ag...

Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion

Chen, Chih-Ping
Su, Yi-Ning
Chen, Yi-Yung
Su, Jun-Wei
Chern, Schu-Rern
Chen, Yu-Ting
Chen, Wen-Lin
Chen, Li-Feng
Wang, Wayseen

December 2011

AbstractObjectiveTo present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hi...

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3

South, Sarah T
Hannes, Femke
Fisch, Gene S
Vermeesch, Joris
Zollino, Marcella

November 2008

Within recent years, numerous individuals have been identified with terminal 4p microdeletions dista...

Wolf-Hirschhorn syndrome revealed by status epilepticus: A case report

IMANE FILALI
HABIBA EL YATIM
ABDELILAH RADI
RACHID ABILKACEM
AOMAR AGADR

January 2023

A Wolf-Hirschhorn syndrome is a rare chromosomal anomaly, which results from a deletion of the dista...

PATHOLOGIC FINDINGS in the WOLF-HIRSCHHORN (4P-) SYNDROME

Gonzalez, C. H.
Capelozzi, V. L.
Wajntal, A.

January 1981

UNIV São Paulo,FAC MED,DEPT PATHOL,São Paulo,BRAZILUNIV São Paulo,FAC MED,MED GENET LAB,São Paulo,BR...

Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

TITOMANLIO L
ROMANO A
CONTI, ANNA
GENESIO R
SALERNO, MARIACAROLINA
DE BRASI D
NITSCH, LUCIO
DEL GIUDICE, ENNIO

January 2004

Wolf-Hirschhorn syndrome (WHS) is caused by a variably-sized deletion of chromosome 4 involving band...

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

South, Sarah
Hannes, Femke
Fisch, Gene
Vermeesch, Joris Robert
Zollino, Marcella (ORCID:0000-0003-4871-9519)

January 2008

Within recent years, numerous individuals have been identified with terminal 4p microdeletions dista...

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

Eva-Cristiana Gavril
Alina Costina Luca
Alexandrina-Stefania Curpan
Roxana Popescu
Irina Resmerita
Monica Cristina Panzaru
Lacramioara Ionela Butnariu
Eusebiu Vlad Gorduza
Mihaela Gramescu
Cristina Rusu

August 2021

Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized b...

Características clínicas y citogenéticas en el síndrome de Wolf-Hirschhorn. Serie de casos

Cammarata Scalisi, Francisco R.
Callea, Michele
Da Silva, Gloria
Araque, Dionora
Lacruz Rengel, María Angelina

January 2015

Wolf-Hirschhorn syndrome is a genetic entity produced by a partial deletion spanning the distal shor...

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

Zollino M
Murdolo M
Marangi G
Pecile V
Galasso C
Neri G.
MAZZANTI, LAURA

January 2008

Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as w...

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Berg, K. ten
Hasselt, P.M. van
Eleveld, M.J.
Wijst, S.E. van der
Hol, F.A.
Vroede, M.A. de
Beemer, F.A.
Hochstenbach, P.F.R.
Poot, M.

January 2007

The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental reta...

Wolf-Hirschhorn syndrome presenting with cardiac manifestations at birth

Sudhir D Malwade
Sharad Agarkhedkar
Swapnil

January 2016

Wolf–Hirschhorn syndrome (WHS) is a condition of developmental delay and dysmorphology caused by a d...

Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study

Pokale, Yamini S.
Jadhav, Ajinkya M.
Kate, Ushang

August 2012

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic ...

Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome

Zollino, Marcella (ORCID:0000-0003-4871-9519)
Di Stefano, C
Zampino, Giuseppe (ORCID:0000-0003-3865-3253)
Mastroiacovo, Pierpaolo
Wright, Tj
Sorge, G
Selicorni, A
Tenconi, Romano
Zappalà, A
Battaglia, Alessandra
Di Rocco, M
Palka, G
Pallotta, R
Altherr, Mr
Neri, Giovanni

January 2000

We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity of...

Hindawi Publishing Corporation Case Reports in Genetics

Article Id

August 2016

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

Wieczorek, D.
Krause, M.
Majewski, F.
Albrecht, B.
Horn, D.
Riess, O.
Gillessen-Kaesbach, G.

July 2000

We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5 males, ag...

Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion

Chen, Chih-Ping
Su, Yi-Ning
Chen, Yi-Yung
Su, Jun-Wei
Chern, Schu-Rern
Chen, Yu-Ting
Chen, Wen-Lin
Chen, Li-Feng
Wang, Wayseen

December 2011

AbstractObjectiveTo present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hi...

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3

South, Sarah T
Hannes, Femke
Fisch, Gene S
Vermeesch, Joris
Zollino, Marcella

November 2008

Within recent years, numerous individuals have been identified with terminal 4p microdeletions dista...

Wolf-Hirschhorn syndrome revealed by status epilepticus: A case report

IMANE FILALI
HABIBA EL YATIM
ABDELILAH RADI
RACHID ABILKACEM
AOMAR AGADR

January 2023

A Wolf-Hirschhorn syndrome is a rare chromosomal anomaly, which results from a deletion of the dista...

PATHOLOGIC FINDINGS in the WOLF-HIRSCHHORN (4P-) SYNDROME

Gonzalez, C. H.
Capelozzi, V. L.
Wajntal, A.

January 1981

UNIV São Paulo,FAC MED,DEPT PATHOL,São Paulo,BRAZILUNIV São Paulo,FAC MED,MED GENET LAB,São Paulo,BR...

Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

TITOMANLIO L
ROMANO A
CONTI, ANNA
GENESIO R
SALERNO, MARIACAROLINA
DE BRASI D
NITSCH, LUCIO
DEL GIUDICE, ENNIO

January 2004

Wolf-Hirschhorn syndrome (WHS) is caused by a variably-sized deletion of chromosome 4 involving band...

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

South, Sarah
Hannes, Femke
Fisch, Gene
Vermeesch, Joris Robert
Zollino, Marcella (ORCID:0000-0003-4871-9519)

January 2008

Within recent years, numerous individuals have been identified with terminal 4p microdeletions dista...

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

Eva-Cristiana Gavril
Alina Costina Luca
Alexandrina-Stefania Curpan
Roxana Popescu
Irina Resmerita
Monica Cristina Panzaru
Lacramioara Ionela Butnariu
Eusebiu Vlad Gorduza
Mihaela Gramescu
Cristina Rusu

August 2021

Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized b...

Características clínicas y citogenéticas en el síndrome de Wolf-Hirschhorn. Serie de casos

Cammarata Scalisi, Francisco R.
Callea, Michele
Da Silva, Gloria
Araque, Dionora
Lacruz Rengel, María Angelina

January 2015

Wolf-Hirschhorn syndrome is a genetic entity produced by a partial deletion spanning the distal shor...

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

Zollino M
Murdolo M
Marangi G
Pecile V
Galasso C
Neri G.
MAZZANTI, LAURA

January 2008

Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as w...

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Berg, K. ten
Hasselt, P.M. van
Eleveld, M.J.
Wijst, S.E. van der
Hol, F.A.
Vroede, M.A. de
Beemer, F.A.
Hochstenbach, P.F.R.
Poot, M.

January 2007

The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental reta...

Wolf-Hirschhorn syndrome presenting with cardiac manifestations at birth

Sudhir D Malwade
Sharad Agarkhedkar
Swapnil

January 2016

Wolf–Hirschhorn syndrome (WHS) is a condition of developmental delay and dysmorphology caused by a d...

Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study

Abstract

Extracted data

Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study

Abstract

Extracted data

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