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

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.

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Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2011.07.012 ◽

2011 ◽

Vol 50 (3) ◽

pp. 394-398

Author(s):

Chih-Ping Chen ◽

Yi-Ning Su ◽

Ming Chen ◽

Jain-Pei Huang ◽

Fuu-Jen Tsai ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Y Chromosome ◽

De Novo ◽

Molecular Cytogenetic ◽

Cytogenetic Characterization

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

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2011.04.007 ◽

2011 ◽

Vol 50 (2) ◽

pp. 253-257 ◽

Cited By ~ 1

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

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

Balkan Journal of Medical Genetics ◽

10.2478/bjmg-2013-0035 ◽

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

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

Cytogenetic and Genome Research ◽

10.1159/000507561 ◽

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.

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

Gene ◽

10.1016/j.gene.2013.01.065 ◽

2013 ◽

Vol 519 (2) ◽

pp. 374-380 ◽

Cited By ~ 2

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

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

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.03.41-42 ◽

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.

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