Results 121 to 130 of about 874,608 (238)

Case Report A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

, 2010
We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife
T. Budak, Erdemoglu, M., Budak, T., H. İsi, M. Erdemoğlu, M. Balkan, Isi, H., A. Gedik, Gedik, A., Balkan, M.   +9 more
core   +1 more source

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

Single-Nucleus Transcriptome Analysis Provides New Insights Into B Chromosome Elimination in Sorghum. [PDF]

Plant Biotechnol J
ABSTRACT B chromosomes are supernumerary entities found in many plant species, with some exhibiting tissue‐specific elimination. In Sorghum purpureosericeum, extensive B chromosome elimination occurs during embryogenesis affecting most of the embryonic organs, leaving the B chromosome maintained mainly in limited regions of meristems.
Bojdová T, Abaffy P, Valihrach L, Karafiátová M, Bartoš J.   +4 more
europepmc   +2 more sources

Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation

, 2003
Trisomy rescue is one of various proposed mechanisms in formation of supernumerary small marker chromosomes (SMC) and uniparental disomy (UPD). In the present report a small de novo marker chromosome derived from chromosome 14 or 22 was diagnosed at ...
Bartels, I., Starke, H., Liehr, Thomas, Glaubitz, R., von Eggeling, F., Burfeind, Peter, Schlueter, G.   +6 more
core   +1 more source

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +1 more source

The Influence of Parenting Style on Neurocognitive Development of Children With an Extra X or Y Chromosome: A Prospective 1‐Year Follow‐Up Study

Andrology, EarlyView.
ABSTRACT Background As sex chromosome trisomies (SCTs), including 47, XXX, 47, XXY, and 47, XYY, are associated with increased risk for neurodevelopmental challenges, studying SCTs may help in understanding the role of early parental caregiving in shaping neurodevelopmental phenotypes of this genetically at‐risk population.
Sophie van Rijn, Nienke Bouw, Kimberly Kuiper, Evelien Urbanus, Hanna Swaab   +4 more
wiley   +1 more source

Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay

, 1996
We report on a boy with two supernumerary marker chromosomes which were identified by fluorescence in situ hybridization and derived from chromosome 6 and 9.
Nieste-Otter, M. A., Hoovers, J. M., Jacobs, M. E., Aalfs, C. M., Hennekam, R. C.   +4 more
core  

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.

, 2006
Item does not contain fulltextPure partial duplication or triplication of the proximal part of chromosome 14 has been reported in only 4 patients. Other individuals with a duplication or triplication of this region have additional chromosome imbalances ...
Merkx, G.F.M., Deure, J. van der, Brunner, H.G., Wunderink, M.I., Faas, B.H.W.   +4 more
core  

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, Giuseppe Grande, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +4 more
wiley   +1 more source