Results 21 to 30 of about 287,317 (259)

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

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

BMC Medical Genetics, 2006
Background Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22.
Peters Sarika U, Sanders Merideth E, Sahoo Trilochan, Lalani Seema R, Bejjani Bassem A   +4 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

A New ‘Deleted’ Rh-Chromosome [PDF]

Nature, 1958
IN 1950, Race, Sanger and Selwyn reported1 a very unusual Rh phenotype characterized by an extraordinary strong reaction with anti-D sera and completely negative reaction with anti-C, anti-c, anti-E and anti-e sera. The case was explained as the homozygous form of a partially deleted Rh chromosome, designated D − −.
openaire   +2 more sources

The Role of Chemotherapy in Pediatric Myoepithelial Carcinoma: A Systematic Review of the Literature

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Myoepithelial carcinoma (MEC) in pediatric patients is a rare and aggressive malignancy characterized by heterogeneous morphology and variable molecular features. The optimal role of chemotherapy remains unclear. We conducted a systematic review according to PRISMA 2020 guidelines to evaluate chemotherapy in pediatric and young‐adult patients ...
Marco Salvi, Maria Carmen Affinita, Giulia Fichera, Luisa Santoro, Angela Scagnellato, Calogero Virgone, Elena Poli, Gianni Bisogno   +7 more
wiley   +1 more source

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Molecular Cytogenetics, 2008
We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscular hypotonia,
Fang Ping, Brown Chester W, Yatsenko Svetlana A, Peacock Sandra, Ou Zhishuo, Cooper M Lance, Shchelochkov Oleg A, Stankiewicz Pawel, Cheung Sau   +8 more
doaj   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Chromosome 20q Deletion [PDF]

American Journal of Clinical Pathology, 2011
Abstractdel(20q) can be observed in hematologic neoplasms, including chronic myelogenous leukemia (CML), and has been reported in patients undergoing blast transformation. We describe 10 patients with CML in hematologic and cytogenetic remission with del(20q) detected by conventional cytogenetics.
Jianlan Sun, C. Cameron Yin, Wei Cui, Su S. Chen, L. Jeffrey Medeiros, Gary Lu   +5 more
openaire   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

Clinical Case Reports, 2017
Key Clinical Message Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations.
Saet Byeol Kim, Young‐Eun Kim, Ji Mi Jung, Hye Young Jin, Yun‐Jung Lim, Mi Lim Chung   +5 more
doaj   +1 more source