Results 131 to 140 of about 5,996,346 (272)
, 2015 Prenatal diagnosis of de novo supernumerary marker chromosome originated from chromosome 16 by array-CGH: A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry.
Karauzum, S. B. +5 more
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Neoplastic Risk in Patients With Klinefelter Syndrome
Andrology, EarlyView.ABSTRACT Background Besides gonadal involvement (hypogonadism, male factor infertility, and testicular hypotrophy), patients with Klinefelter syndrome (KS) may suffer from several extra‐gonadic complications, including neoplastic events. Objective The aim of this review is to summarize all major clinical evidence dealing with the association between KS
Andrea Graziani +4 more
wiley +1 more source
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 +14 more
wiley +1 more source
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 +5 more
wiley +1 more source
Book Review: Small Supernumerary Marker Chromosomes. Basics
OBM GeneticsThis review provides a critical assessment of the content and structure of the recently published book by Dr. Thomas Liehr, 'Small Supernumerary Marker Chromosomes: Basics.'
openaire +1 more source
Frontiers in GeneticsIntroduction:The combination of gene content on the marker chromosome, chromosomal origin, level of mosaicism, origin mechanism (chromothripsis), and uniparental disomy can influence the final characterization of sSMCs. Several chromosomal aberrations, including sSMCs, have been observed in 30%–60% of patients with pigmentary mosaicism, and in more ...
M. P. Navarrete-Meneses +11 more
openaire +3 more sources
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 +3 more
wiley +1 more source
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 +4 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 +4 more
europepmc +1 more source