M. Guitart

Pompeu Fabra University

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Mercè Durfort

Universitat de Barcelona

T. Escudero

Reprogenetics

M. Regal

World Health Organization Regional Office for the Eastern Mediterranean

Chutaro Yamanaka

Tenri Hospital

Ricardo V. García‐Mayor

Galicia Sur Biomedical Foundation

Jesús A. Osuna

Universidad de Los Andes

E. Mustafa

University of Baghdad

Katharina M. Main

I. Cicotti

University Hospital of Geneva

Ryogo Mori

Nagasaki University

Cooperative Institutions

Universitat Autònoma de Barcelona

Universitat de Barcelona

Banc de Sang i Teixits

Vall d'Hebron Institut de Recerca

Puigvert Foundation

Hospital Clínico Universitario de Caracas

Nagasaki University

Hospital Militar Dr. Carlos Arvelo

Kyoto University

Kyoto University Hospital

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Characterization by FISH of a t(5;13) in a patient with bilateral retinoblastoma

Cancer Genetics and Cytogenetics (1997)

E. Triviño M. Guitart J. Egozcue Mercè Durfort

Retinoblastoma

Cosmid

Chromosome 13

10.1016/s0165-4608(97)89572-6

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Citations (1)

A Case with 47, XXY, del(15)(q11;q13) Karyotype Associated with Prader-Willi Phenotype

Hormone Research (1997)

Alexandre Rêgo Mercè Durfort M. Regal M. Guitart T. Escudero

Herein we present the case of a 12-year-old boy who attended our clinic for obesity and hyperphagia. As a newborn he was noted to have diffuse muscular hypotonia and poor sucking response. At the age of 11 years, he was admitted to hospital for respiratory insufficiency. He had personality disorders characterized by temper tantrums and violent outbursts including self-mutilation. Physical evaluation revealed marked central obesity, he had small hands and feet, and also genital hypoplasia. Of the biochemical parameters, hyperglycemia and a low serum testosterone level must be emphasized. The patient fulfills the clinical criteria of typical Prader-Willi syndrome. Cytogenetic and fluorescence in situ hybridization analysis showed a karyotype 47, XXY, del(15)(qll;ql3). To our knowledge this is the first report of the aforementioned genotype expressed as Prader-Willi phenotype in childhood.

10.1159/000185422

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Citations (20)

Appraisal of fluorescence in situ hybridization (FISH) techniques in prenatal diagnosis

Early Human Development (1993)

P. Grao M. Guitart Mercè Durfort J. Egozcue

Interphase

Hybridization probe

10.1016/0378-3782(93)90205-9

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Citations (3)

Apolipoprotein E ϵ4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers

Neuroscience Letters (1998)

Mario Ezquerra F Ballesta R Queralt Rosa Aledo David Gómez

Apolipoprotein E

Proband

10.1016/s0304-3940(98)00251-1

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Citations (10)

Sperm DNA Integrity and Meiotic Behavior Assessment in an Infertile Male Carrier of a 9qh+++ Polymorphism

BioMed Research International (2010)

Agustín García-Peiró M. Oliver‐Bonet J. Navarro Carlos Abad M. Guitart

Although several reports on male infertility suggest a relationship between chromosome 9 polymorphisms and infertility, the effects on the phenotype have not been extensively reported. In this study, an infertile patient was found to carry a 9qh+++ chromosome. The flow cytometric TUNEL assay and SCD test have been applied to characterize sperm DNA integrity. In order to assess its meiotic behaviour, synapsis, recombination, and aneuploidy, analyses have been also performed. Sperm DNA fragmentation (SDF) was 77.81% and 87% for the TUNEL and SCD tests, respectively. Ninety-two percent of pachytene cells analyzed showed meiotic abnormalities. The mean number of MLH1 foci per pachytene in the control group was higher (49) than the mean found in the 9qh+++ patient (38) (P < .0001). In spermatozoa, significant increases of disomy rates were observed for chromosome 18 and for the sex chromosomes (P < .0001). These disturbances could be present in other male carriers of a less marked 9qh+.

10.1155/2011/730847

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Citations (12)

Erratum

Hormone Research (1997)

Roberto Lanes Peter Günczler Jesús A. Osuna Anselmo Palacios Eduardo Carrillo

10.1159/000185362

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Citations (1)

Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei

Human Genetics (1997)

P. Colls Joan Blanco O. Martínez-Pasarell Francesca Vidal J. Egozcue

Chromosomal inversion

Human genetics

Metabolic disease

10.1007/s004390050444

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Citations (44)

Announcement

Hormone Research (1997)

Roberto Lanes Peter Günczler Jesús A. Osuna Anselmo Palacios Eduardo Carrillo

10.1159/000185358

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Citations (0)

[Wolf's syndrome due to pericentric inversion of maternal chromosome 4].

PubMed (1987)

de la Flor Bru J M. Guitart

A female patient with characteristic phenotype of Wolf's syndrome is reported. Chromosomic studies showed that her mother was carrier of pericentric inversion in number 4 chromosome. Genetic mechanism which explain clinical manifestations is discussed.

Chromosomal inversion

Chromosome 9

Source

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Citations (2)

Quality and stability studies of red blood cell concentrates from umbilical cord blood compared to their adult counterparts.

PubMed (2024)

Dinara Samarkanova Margarita Codinach Gemma Aran M. Guitart Elena Valdivia

Prematurity is a significant health issue due to its incidence and associated complications. Anemia is common in extremely preterm infants (EPI) and often requires transfusions. Red blood cells (RBC) from adult blood (AB) donors have been linked to oxygen-related complications in EPI, leading to the exploration of cord blood (CB) as an alternative source. However, standardization of CB-RBC manufacturing and comparison with AB-RBC characteristics are necessary before clinical studies can be conducted.

Blood preservation

10.2450/bloodtransfus.761

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Citations (2)