Results 131 to 140 of about 874,608 (238)

Machine Learning‐Based Prediction of Sperm Retrieval Outcomes in Patients With Klinefelter Syndrome: A Multicenter Study With External Validation

Andrology, EarlyView.
ABSTRACT Background The Klinefelter syndrome is a common genetic cause of male infertility, and testicular sperm extraction (TESE) enables sperm retrieval in a subset of affected patients. However, predicting TESE success remains challenging due to the heterogeneous clinical and endocrinological presentation of the Klinefelter syndrome.
Murat Gül, Ali Şahin, Cevahir Özer, Mesut Altan, Tansu Güdelci, Kadir Can Sahin, Mehmet Hamza Gültekin, Muhammed Arif İbis, Mesut Berkan Duran, Burak Sivaslıoğlu, Eray Hasırcı, Mert Kılıç, Ali Can Albaz, Gökhan Çeker, Gianmaria Salvio   +14 more
wiley   +1 more source

A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome

Taiwanese Journal of Obstetrics & Gynecology
Objective: Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome. Case report: Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype.
Haruna Okubo, Yuki Ito, Tomoko Kawai, Hiromi Kamura, Michihiro Yamamura, Mikiko Kaneko, Akihiro Hasegawa, Ken Takahashi, Masahisa Kobayashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto   +12 more
doaj   +1 more source

First Report of a Small Supernumerary der(8;14) Marker Chromosome

, 2013
Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread.
Guilherme, Roberta dos Santos [UNIFESP], Perez, Ana Beatriz Alvarez [UNIFESP], Hamid, Ahmed B., Takeno, Sylvia Satomi [UNIFESP], Klein, Elisabeth, Liehr, Thomas, Dutra, Ana Rosa Noronha [UNIFESP], Kulikowski, Leslie Domenici, Oliveira, Mariana Moyses [UNIFESP], Melaragno, Maria Isabel [UNIFESP]   +9 more
core   +1 more source

Prevalence of Spermatozoa in the Ejaculate of Adolescents With Klinefelter Syndrome: Implications for Fertility Counseling

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is the most common genetic cause of male infertility and is associated with nonobstructive azoospermia. Advances in surgical sperm retrieval techniques have enabled biological fatherhood in a subset of men with KS.
Cecilie N. Larsen, Andrés Felipe Ø. Fritzbøger, Sofia B. Winge, Niels Jørgensen, Anders Juul, Lise Aksglaede   +5 more
wiley   +1 more source

Non-Mosaic Tetrasomy 9p in An Infant With Multiple Congenital Anomalies

Gynecology Obstetrics & Reproductive Medicine, 2007
Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described for 12p, 18p and 9p. To date, approximately 30 patients have been described with a tetrasomy 9p, majority of cases being mosaics.
Füsun Düzcan, Hacer Ergin, Melike Aytan, Emre Tepeli, Özmert Özdemir, Seher Başaran   +5 more
doaj  

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function. [PDF]

Genes (Basel), 2020
Karamysheva TV, Gayner TA, Muzyka VV, Orishchenko KE, Rubtsov NB.   +4 more
europepmc   +1 more source

Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

Andrology, EarlyView.
ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley   +1 more source

Bone Health and Aging in Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Klinefelter syndrome (KS) is typically diagnosed in young adults, but advances in prenatal testing have led to its recognition at a much earlier age. Conversely, diagnosis in late adulthood remains uncommon, but still occurs. Independently from the age at diagnosis, KS individuals now receive more accurate and tailored care management than in ...
Filippo Vignali, Daniele Renda Livraghi, Francesco Costantino, Sara De Vincentis, Vincenzo Rochira   +4 more
wiley   +1 more source

Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report. [PDF]

Am J Mens Health, 2020
Zhang J, Li L, Li Q, Cai Z, Wang B, Wang J, Li H.   +6 more
europepmc   +1 more source