Y Chromosome CNV Attribute to the Normal Female Phenotype of a 46XX/46XY Chimerism: A Case Report

SummarySex in man and probably throughout the class mammalia is normally determined by the presence of a Y chromosome (male) or its absence (female). The presence of genetic loci on both the long and the short arm of the X chromosome in double dose appears to be essential for the development of mature functional ovaries in the human female though a single X suffices in the female mouse.The development of masculine genital anatomy and phenotype is a consequence of prior formation of testes. In the absence of gonads of either kind, female internal and external genitalia are formed but secondary sex development fails. In rare human families a mutant gene suppresses the development of male external genitalia in 46, XY embryos but permits the development of testes and male internal genitalia. The external phenotype is normal female (syndrome of testicular feminization). A sex-linked mutant gene in the mouse has a similar effect.The locus or loci directly concerned with male development might lie wholly on the Y chromosome or might be located on another chromosome or chromosomes. In the latter case it (or they) must be repressed in the female and normally activated by a locus or loci on the Y chromosome in the male. Present evidence does not permit the exclusion of either possibility.

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Complete Azoospermia Factor b Deletion of Y Chromosome in an Infertile Male With Severe Oligoasthenozoospermia: Case Report and Literature Review

Urology ◽

10.1016/j.urology.2016.07.022 ◽

2017 ◽

Vol 102 ◽

pp. 111-115 ◽

Cited By ~ 5

Author(s):

Yong-Sheng Zhang ◽

Lin-Lin Li ◽

Lin-Tao Xue ◽

Hao Zhang ◽

Yue-Ying Zhu ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Y Chromosome ◽

Infertile Male ◽

Factor B ◽

Azoospermia Factor

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De novo Structure Variations of the Y Chromosome in a 47,XXY Female with Ovarian Failure: A Case Report

Cytogenetic and Genome Research ◽

10.1159/000366170 ◽

2014 ◽

Vol 143 (4) ◽

pp. 221-224 ◽

Cited By ~ 1

Author(s):

Bin Lin ◽

Fengqin Tan ◽

Heng Xu ◽

Ping Wang ◽

Quan Tang ◽

...

Keyword(s):

Case Report ◽

Y Chromosome ◽

De Novo ◽

Ovarian Failure

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Agénésie Sacrococcygienne et Syndrome de Bonnevie-Ullrich Étude Génétique et Chromosomique

Acta geneticae medicae et gemellologiae ◽

10.1017/s1120962300015912 ◽

1964 ◽

Vol 13 (1) ◽

pp. 69-89

Author(s):

I. Emerit ◽

J. de Grouchy ◽

P. Corone ◽

P. Vernant ◽

M. Laval-Jeantet

Keyword(s):

Genetic Study ◽

Gonadal Dysgenesis ◽

External Factors ◽

Normal Female ◽

Female Phenotype ◽

Embryonic Life

SUMMARYA child, aged 11, with female phenotype, associating a sacrococcygeal agenesis to Bonnevie-Ullrich's syndrome, without gonadal dysgenesis, is described. The patient's caryotype is a normal female one (44 A, XX). No similar cases could be found in the literature.This association of two syndromes of undetermined origin is probably fortuitous. A genetic study of 65 pedigrees from the literature did not reveal a mendelian type of inheritance. The possibility of external factors having occurred during embryonic life is discussed.

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Usefulness of imprint cytology of gonadoblastoma with dysgerminoma in a patient with Turner syndrome and a Y chromosome: A case report and literature review

Diagnostic Cytopathology ◽

10.1002/dc.24282 ◽

2019 ◽

Vol 47 (11) ◽

pp. 1203-1207

Author(s):

Tamiko Nagai ◽

Kiyoshi Hasegawa ◽

Emi Motegi ◽

Hiromi Machida ◽

Hideo Sasaki ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Turner Syndrome ◽

Y Chromosome ◽

Imprint Cytology

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47, XYY Syndrome and its Association with Male Infertility: Case Report

International Journal of Innovative Research in Medical Science ◽

10.23958/ijirms/vol05-i04/857 ◽

2020 ◽

Vol 5 (04) ◽

Author(s):

Dr. Soni Ashish Kumar ◽

Dr. Reddy Sanjeeva N

Keyword(s):

Case Report ◽

Male Infertility ◽

Y Chromosome ◽

Chorionic Gonadotropin ◽

Peripheral Blood Lymphocytes ◽

Severe Oligozoospermia ◽

Early Management ◽

Conventional Cytogenetic Analysis ◽

Infertile Men ◽

Xyy Syndrome

47, XYY syndrome is one of the most common sex chromosomal anomaly found in humans after Klinfelter syndrome (47, XXY). It is frequently associated with infertility in males. This syndrome has an extra Y chromosome (XYY) due to non-disjunction of the Y chromosome in paternal meiotic II. The presence of an extra Y chromosome causes hormonal disbalance in the gonads that responsible for abnormal function of human chorionic gonadotropin. In our case of infertile men with severe oligozoospermia that also confirm by conventional cytogenetic analysis of the peripheral blood lymphocytes revealed the constitutional karyotype of 47, XYY. This report is likely to be helpful for counselling and early management of such infertile males.

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