Results 31 to 40 of about 462,672 (344)

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome

Case Reports in Obstetrics and Gynecology, 2019
Background. Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia.
Masatake Toshimitsu, Shinichi Nagaoka, Shuusaku Kobori, Maki Ogawa, Fumihiko Suzuki, Takema Kato, Shunsuke Miyai, Rie Kawamura, Hidehito Inagaki, Hiroki Kurahashi, Jun Murotsuki   +10 more
doaj   +1 more source

Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 [PDF]

, 2018
Intrachromosomal amplification of chromosome 21 is a heterogeneous chromosomal rearrangement occurring in 2% of childhood precursor B-cell acute lymphoblastic leukemia.
Bashton, Matthew, Blair, Helen H., Buechler, Lars, Carey, Peter, Cheng, Joanna, Clayton, Jake, Halsey, Christina, Hanna, Rebecca, Harrison, Christine J., Hawking, Zoe, Heidenreich, Olaf, Hollern, Shaun, Jones, Lisa, Marr, Helen, Moorman, Anthony V., Russell, Lisa J., Ryan, Sarra L., Schwab, Claire J., Sinclair, Paul B.   +18 more
core   +3 more sources

Application value of NIPT for uncommon fetal chromosomal abnormalities

Molecular Cytogenetics, 2020
Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin, Yinghua Tang, Qing Lu, Aiping Pan, Mingfang Shi   +4 more
doaj   +1 more source

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia [PDF]

, 2016
Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric symptoms.
Bassett, John, Chandler, Kate E., Douzgou, Sofia   +2 more
core   +1 more source

Deletion of proteasomal subunit S5a/Rpn10/p54 causes lethality, multiple mitotic defects and overexpression of proteasomal genes in Drosophila melanogaster [PDF]

, 2003
The regulatory complex of the 26S proteasome is responsible for the selective recognition and binding of multiubiquitinated proteins. It was earlier shown that the subunit S5a/Rpn10/p54 of the regulatory complex is the only cellular protein capable of ...
Andó, István, Deák, Péter, Haracska, Lajos, Kiss, István, Kurucz, Éva, Szlanka, Tamás, Udvardy, Andor, Virágh, Erika   +7 more
core   +1 more source

Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report

Case Reports in Pediatrics, 2012
Sinus of Valsalva aneurysm (SVA) is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula.
Eda-Cristina Abuchaibe, Nancy Dobrolet, Katherine Peicher, Roque Ventura, Elizabeth Welch   +4 more
doaj   +1 more source

Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

Molecular Cytogenetics, 2023
Background Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic ...
Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li, Ying Yang   +6 more
doaj   +1 more source

The association of gr/gr deletion in the Y chromosome and impaired spermatogenesis in Bulgarian males: a pilot study

Middle East Fertility Society Journal, 2020
Background The microdeletions of the Y chromosome are associated with a decreased number of sperm cells in the ejaculate and male infertility. One such deletion is the gr/gr, which leads to reduction of the alleles in the DAZ gene.
Mariya Levkova, Trifon Chervenkov, Lyudmila Angelova   +2 more
doaj   +1 more source

Significance of chromosome 9p status in renal cell carcinoma:a systematic review and quality of the reported studies [PDF]

, 2014
Defining the prognosis of renal cell carcinoma (RCC) using genetic tests is an evolving area. The prognostic significance of 9p status in RCC, although described in the literature, remains underutilised in clinical practice. The study explored the causes
Cunningham, J., El-Mokadem, Ismail, Fitzpatrick, John, Fleming, Stewart, Nabi, Ghulam, Pratt, Norman, Rai, Bhavan   +6 more
core   +5 more sources