scholarly journals Normal Female Phenotype and Ovarian Development Despite the Ovarian Expression of the Sex-Determining Region of Y Chromosome (SRY) in a 46,XX/69,XXY Diploid/Triploid Mosaic Child Conceived afterin VitroFertilization–Intracytoplasmic Sperm Injection

2007 ◽  
Vol 92 (3) ◽  
pp. 1008-1014 ◽  
Author(s):  
Ozgur Oktem ◽  
Darius A. Paduch ◽  
KangPu Xu ◽  
Anna Mielnik ◽  
Kutluk Oktay
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
Ovarian Development ◽  
Normal Female ◽  
Female Phenotype

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

2018 ◽  
Vol 08 (06) ◽  
Author(s):  
Zhang H ◽  
Gao L ◽  
Zhao P ◽  
Liu C ◽  
Li W ◽  
...  
Keyword(s):  
Case Report ◽  
Y Chromosome ◽  
Normal Female ◽  
Female Phenotype

Cytogenetics and sex determination in man and mammals

1970 ◽  
Vol 2 (S2) ◽  
pp. 7-30 ◽  
Author(s):  
C. E. Ford
Keyword(s):  
Y Chromosome ◽  
External Genitalia ◽  
Mutant Gene ◽  
Normal Female ◽  
Human Female ◽  
Present Evidence ◽  
Male Development ◽  
Sex Development ◽  
Internal Genitalia ◽  
Male External Genitalia

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.

Absence of de novo Y-chromosome microdeletions in male children conceived through intracytoplasmic sperm injection

2004 ◽  
Vol 82 (6) ◽  
pp. 1679-1680 ◽  
Author(s):  
Belén Buch ◽  
José Jorge Galán ◽  
Miguel Lara ◽  
Luis Miguel Real ◽  
Manuel Martínez-Moya ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
De Novo ◽  
Y Chromosome Microdeletions

scholarly journals Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions

Medicine ◽  
2019 ◽  
Vol 98 (41) ◽  
pp. e17407
Author(s):  
Qi Xi ◽  
Zhihong Zhang ◽  
Ruixue Wang ◽  
Linlin Li ◽  
Leilei Li ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
Perinatal Outcomes ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

scholarly journals The outcomes of intracytoplasmic sperm injection (ICSI) using spermatozoa with Y chromosome microdeletion

2017 ◽  
Vol 108 (3) ◽  
pp. e131
Author(s):  
T. Ishikawa ◽  
K. Yamaguchi ◽  
T. Takeuchi ◽  
K. Kitaya ◽  
H. Matsubayashi
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection ◽  
Y Chromosome Microdeletion

Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions

Andrologia ◽  
2016 ◽  
Vol 49 (1) ◽  
pp. e12602 ◽  
Author(s):  
X.-Y. Liu ◽  
R.-X. Wang ◽  
Y. Fu ◽  
L.-L. Luo ◽  
W. Guo ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Intracytoplasmic Sperm Injection

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

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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