Results 181 to 190 of about 14,847 (202)

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts

European Journal of Medical Genetics, 2015
We report the prenatal detection of a de novo unbalanced complex chromosomal rearrangement (CCR), in a fetus with growth delay and bilateral cataracts. Standard karyotype and FISH analyses on amniotic fluid revealed a complex de novo translocation, resulting in a 46,XY,t(1;12;14)(q42;q14;q32) karyotype.
Laure, Raymond, Bruno, Francou, François, Petit, Lucie, Tosca, Audrey, Briand-Suleau, Corinne, Metay, Jelena, Martinovic, Anne-Gaël, Cordier, Alexandra, Benachi, Dominique, Pineau, Anne, Guiochon-Mantel, Michel, Goossens, Gérard, Tachdjian, Sophie, Brisset   +13 more
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Dup(1q)(q42-->qter) syndrome: case report and review of literature.

American journal of medical genetics, 1994
We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell-Silver syndrome (RSS) had been considered but was abandoned when cytogenetic evaluation ...
I, Kennerknecht, G, Barbi, K, Rodens
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SMN-Q42 Modell

We present the SMN-Q42 model as a structural framework that organizes solar-terrestrial energy relationships through discrete mathematical patterns. Built upon the parameter-free Simplicity Theory, the model identifies structural scales $\Ecore = 246 = 200 + 40 + 6$ and $\Delta = 133 = 100 + 30 + 3$ that serve as organizing principles rather than new ...
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MPEC 2025-Q42 : 2011 VP12

The Minor Planet Electronic Circulars contain information on unusual minor planets, routine data on comets and natural satellites, and occasional editorial announcements. They are published on behalf of Division F of the International Astronomical Union by the Minor Planet Center, Smithsonian Astrophysical Observatory, Cambridge, MA 02138, U.S.A.
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[Long-arm deletion of chromosome 1: 46,XY, del (1) (Q42) (author's transl)].

Anales espanoles de pediatria, 1979
A case of long-arm deletion of chromosome No. 1: 46,XY, del (1) (q42) is reported. From the revised bibliography only two cases are comparable cytogenetically, not so phenotypically. The usefulness of the recent banding techniques in the precise diagnosis of small structural anomalies of the chromosome is outlined and the difficulty in establishing the
M, Molina, J M, Santolaya, G, Saitua, M, Hernández   +3 more
openaire   +1 more source

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype

American Journal of Medical Genetics Part A, 2018
Chromosome 1q41‐q42 deletions have recently been associated with a recognizable neurodevelopmental syndrome of early childhood (OMIM 612530). Within this group, a predominant phenotype of developmental delay (DD), intellectual disability (ID), epilepsy, distinct dysmorphology, and brain anomalies on magnetic resonance imaging/computed tomography has ...
Chris Balak, Newell Belnap, Keri Ramsey, Shelagh Joss, Koen Devriendt, Marcus Naymik, Wayne Jepsen, Ashley L. Siniard, Szabolcs Szelinger, Mary E. Parker, Ryan Richholt, Tyler Izatt, Madison LaFleur, Panieh Terraf, Lorida Llaci, Matt De Both, Ignazio S. Piras, Sampathkumar Rangasamy, Isabelle Schrauwen, David W. Craig, Matt Huentelman, Vinodh Narayanan   +21 more
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MPEC 2024-Q42 : OBSERVATIONS AND ORBITS OF COMETS AND A/ OBJECTS

The Minor Planet Electronic Circulars contain information on unusual minor planets, routine data on comets and natural satellites, and occasional editorial announcements. They are published on behalf of Division F of the International Astronomical Union by the Minor Planet Center, Smithsonian Astrophysical Observatory, Cambridge, MA 02138, U.S.A.
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A familial paracentric inv(1)(q42q44) resulting in a child with a del(1)(q42) karyotype.

Annales de genetique, 1986
The derivation of a 46,XY,del(1)(q42) chromosome complement in a mentally retarded child from a maternal paracentric inv(1)(q42q44) is discussed and the clinical findings are compared to previously reported cases of the same deletion syndrome.
M, Speevak, A G, Hunter, H, Hughes, D M, Cox   +3 more
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Characterization of a novel acquired der(1)del(1)(p13p31)t(1;15)(q42;q15) in a high risk t(12;21)-positive acute lymphoblastic leukemia

Gene, 2016
The t(12;21)(p13;q22) with ETV6-RUNX1 fusion occurs in 25% of cases of B-cell precursor acute lymphoblastic leukemia (BCP-ALL); and is generally associated with favorable prognosis. However, 15-20% of the t(12;21)-positive cases are associated with high-risk disease due to for example slow early responses to therapy.
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Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1.

Cytogenetics and cell genetics, 1983
The structural gene for human acid beta-glucosidase (GBA) has been regionally assigned to a narrow region on chromosome 1 using somatic cell hybridization, specific immunoprecipitation, and assay with the natural substrate. A human fibroblast line, 46,XX,del(1)(pter leads to q42:), was fused with mouse RAG fibroblasts and the heterokaryons were ...
E A, Devine, M, Smith, F X, Arredondo-Vega, B, Shafit-Zagardo, R J, Desnick   +4 more
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