Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome

2005 ◽  
Vol 132A (2) ◽  
pp. 198-201 ◽  
Author(s):  
Wolfram Heinritz ◽  
Dieter Kotzot ◽  
Stefan Heinze ◽  
Annegret Kujat ◽  
Werner J. Kleemann ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Klinefelter Syndrome ◽  
Cytogenetic Characterization

Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man

2004 ◽  
Vol 81 (5) ◽  
pp. 1388-1390 ◽  
Author(s):  
Angelo Valetto ◽  
Veronica Bertini ◽  
Erika Rapalini ◽  
Fulvia Baldinotti ◽  
Daniela Di Martino ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Structural Rearrangement ◽  
Cytogenetic Characterization

Cytogenetic characterization of a genetic sexing strain in Ceratitis capitata

Genome ◽  
1991 ◽  
Vol 34 (4) ◽  
pp. 606-611 ◽  
Author(s):  
A. Zacharopoulou ◽  
M. E. Riva ◽  
A. Malacrida ◽  
G. Gasperi
Keyword(s):  
Y Chromosome ◽  
Ceratitis Capitata ◽  
Chromosomal Rearrangements ◽  
Polytene Chromosomes ◽  
Chromosome 2 ◽  
Genetic Sexing ◽  
Cytogenetic Characterization ◽  
Cytological Characteristics ◽  
Genetic Sexing Strain

A genetic sexing strain of Ceratitis capitata, carrying a null mutation for ADH activity linked to the Y chromosome, was analysed cytogenetically. In addition to an insertion of a large part of the Y chromosome into chromosome 2, this strain carries two other chromosomal rearrangements, a deletion in the second chromosome and a reciprocal translocation involving chromosomes 2 and 4. The progeny of the T(2;4) translocation heterozygote with unbalanced chromosome constitution can survive up to the larval and (or) to the adult stage. These cytological characteristics are discussed in relation to the genetic sexing behaviour of this line.Key words: Ceratitis capitata, polytene chromosomes, genetic sexing.

scholarly journals Prenatal diagnosis and molecular cytogenetic characterization of a small marker chromosome derived from Y chromosome

2011 ◽  
Vol 50 (2) ◽  
pp. 253-257 ◽  
Author(s):  
Chih-Ping Chen ◽  
Ming Chen ◽  
Gwo-Chin Ma ◽  
Shun-Ping Chang ◽  
Yi-Yung Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Y Chromosome ◽  
Marker Chromosome ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals MOLECULAR CYTOGENETIC CHARACTERIZATION OF AN inv(Y)(p11.2q11.221~q11.222) IN A SYRIAN FAMILY

2013 ◽  
Vol 16 (2) ◽  
pp. 73-76
Author(s):  
W. Al-Achkar ◽  
A. Wafa ◽  
A. Al-Ablog ◽  
F. Moassass ◽  
T. Liehr
Keyword(s):  
Mental Retardation ◽  
Y Chromosome ◽  
Chromosomal Abnormalities ◽  
Pcr Analysis ◽  
Fish Analysis ◽  
Pericentric Inversions ◽  
Cytogenetic Characterization ◽  
Human Y Chromosome

ABSTRACT Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility, congenital anomalies and mental retardation in humans. Pericentric inversions of the human Y-chromosome [inv(Y)] are rather common and show an estimated incidence of 0.6-1:1,000 in males in the general population. Most of the reported cases with inv(Y) are familial. For carriers of pericentric inversions the risk of mental retardation or multiple abortions is not apparently increased and there is no relation with abnormal phenotypic features. Polymerase chain reaction (PCR) analysis to detect microdeletions along the Y-chromosome as well as cytogenetic and fluorescence in situ hybridization (FISH) analysis were done to delineate the characteristics of an inv(Y) in a Syrian family. Thus, we present a detailed molecularcytogenetic characterization of a father and his two sons having an inv(Y)(p11. 2q11.221~q11.222) with varying mental retardation features but otherwise normal phenotype

Nonmosaic Trisomy 19p13.3p13.2 Resulting from a Rare Unbalanced t(Y;19)(q12;p13.2) Translocation in a Patient with Pachygyria and Polymicrogyria

2020 ◽  
Vol 160 (4) ◽  
pp. 177-184
Author(s):  
Daniel Martínez Anaya ◽  
Liliana Fernández Hernández ◽  
Ariadna González del Angel ◽  
Miguel A. Alcántara Ortigoza ◽  
Verónica Ulloa Avilés ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Y Chromosome ◽  
De Novo ◽  
Heart Defects ◽  
Clinical Spectrum ◽  
Unbalanced Translocation ◽  
Craniofacial Anomalies ◽  
Genetic Condition ◽  
Cytogenetic Characterization

Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic characterization of a 5-year-old boy with nonmosaic trisomy 19p13.3p13.2 (7.38 Mb), generated by a derivative Y chromosome resulting from a de novo unbalanced translocation t(Y;19)(q12;p13.2). We demonstrated the integrity of the euchromatic regions in the abnormal Y chromosome to confirm the pure trisomy 19p. Our patient shares some clinical features described in other reported patients with pure trisomy 19p, such as craniofacial anomalies, developmental delay, and heart defects. Different to previous reports, our case exhibits frontal pachygyria and polymicrogyria. These additional features contribute to further delineate the clinical spectrum of trisomy 19p13.3p13.2.

Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development

Gene ◽  
2013 ◽  
Vol 519 (2) ◽  
pp. 374-380 ◽  
Author(s):  
Usha R. Dutta ◽  
Vijaya Kumar Pidugu ◽  
Ch. Venkateshwar Goud ◽  
Christiane Hoefers ◽  
Monika Hagemann ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sexual Development ◽  
Chromosome Rearrangement ◽  
Molecular Cytogenetic ◽  
Disorder Of Sexual Development ◽  
Cytogenetic Characterization ◽  
Novel Complex

Clinical and genetic characterization of two cases of central hypogonadism in Klinefelter syndrome

2020 ◽  
Author(s):  
Rita Indirli ◽  
Biagio Cangiano ◽  
Eriselda Profka ◽  
Elena Castellano ◽  
Giovanni Goggi ◽  
...  
Keyword(s):  
Genetic Characterization ◽  
Klinefelter Syndrome

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

Seed morphology and cytogenetic characterization of an endangered wild cotton, Gossypium turneri Fryxell, from Mexico

2021 ◽  
Author(s):  
Karla Fabiola Yescas-Romo ◽  
Francisco Elizandro Molina-Freaner ◽  
Francisca Ramírez-Godina ◽  
M. Humberto Reyes-Valdés ◽  
Octavio Martínez ◽  
...  
Keyword(s):  
Seed Morphology ◽  
Wild Cotton ◽  
Cytogenetic Characterization
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