scholarly journals Case Report: Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter's syndrome

1999 ◽  
Vol 14 (2) ◽  
pp. 368-370 ◽  
Author(s):  
R. Ron-El ◽  
S. Friedler ◽  
D. Strassburger ◽  
D. Komarovsky ◽  
M. Schachter ◽  
...  
Keyword(s):  
Case Report ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Testicular Spermatozoa ◽  
Intracytoplasmic Injection ◽  
Healthy Neonate

scholarly journals A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Dan Li ◽  
Yun Wang ◽  
Nan Zhao ◽  
Liang Chang ◽  
Ping Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Karyotype Analysis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Comparative Genomic ◽  
Klinefelter’S Syndrome ◽  
Mechanism Analysis ◽  
Klinefelter's Syndrome ◽  
Preimplantation Genetic Testing ◽  
First Case

Abstract Background Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. Case presentation Here, we reported a woman whose karyotype was 46, XX, t (1;17)(q42;q21), has obtained 5 embryos by intracytoplasmic sperm injection (ICSI) after one cycle of in vitro fertility (IVF). After microarray-based comparative genomic hybridization (array-CGH) for preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR), two embryos were balanced, one balanced embryo was implanted and the patient successfully achieved pregnancy. Amniocentesis was performed at the 19th week of gestation for karyotype analysis and single nucleotide polymorphism (SNP)-array test. The result of karyotype analysis was: mos 47, XXY [19]/46, XY [81]; SNP-array results revealed 46, XY, iUPD (9) pat. After full genetic counseling for mosaic Klinefelter’s syndrome and paternal iUPD (9), the couple decided to continue pregnancy, and the patient gave birth to a healthy boy. The newborn is now 3.5 years old, and developed normally. This case will provide counseling evidences of paternal iUPD (9) for doctors. Conclusions This is the first case report of paternal iUPD9 with mosaic Klinefelter’s syndrome, and no abnormality has been observed during the 3.5-year follow-up. Further observation is required to determine whether the imprinted genes on the chromosomes are pathogenic and whether recessive pathogenetic genes are activated.

A prolactin-secreting tumor in a patient with Klinefelter’s syndrome: A case report

1996 ◽  
Vol 19 (4) ◽  
pp. 248-252 ◽  
Author(s):  
Ana Claudia de A. R. Pinto ◽  
M. A. Czepielewski ◽  
J. L. Gross ◽  
W. Mussio ◽  
A. M. J. Lengyel
Keyword(s):  
Case Report ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome

Schizophrenia and Klinefelter's Syndrome

1981 ◽  
Vol 26 (4) ◽  
pp. 262-264 ◽  
Author(s):  
Alec Roy
Keyword(s):  
Case Report ◽  
Psychiatric Disorder ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Documented Case

Psychiatric disorder in relation to Klinefelter's syndrome is reviewed. A well documented case report is presented of a schizophreniform illness in a patient with Klinefelter's.

Births after Intracytoplasmic Injection of Sperm Obtained by Testicular Extraction from Men with Nonmosaic Klinefelter's Syndrome

1998 ◽  
Vol 338 (9) ◽  
pp. 588-590 ◽  
Author(s):  
Gianpiero D. Palermo ◽  
Peter N. Schlegel ◽  
E. Scott Sills ◽  
Lucinda L. Veeck ◽  
Nikica Zaninovic ◽  
...  
Keyword(s):  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Intracytoplasmic Injection

Outcome of ICSI Using Fresh and Cryopreserved-Thawed Testicular Spermatozoa in Patients With Non-Mosaic Klinefelter’s Syndrome

2002 ◽  
Vol 57 (5) ◽  
pp. 293-294 ◽  
Author(s):  
S. Friedler ◽  
A. Raziel ◽  
D. Strassburger ◽  
M. Schachter ◽  
O. Bern ◽  
...  
Keyword(s):  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Testicular Spermatozoa
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