Results 171 to 180 of about 2,689 (218)

Partial trisomy 1 (q42→ter)

Clinical Genetics, 1980
Clinical findings on three closely related, severely malformed infants and a 20‐week‐old fetus with an identical partial trisomy of chromosome 1 (1q42→ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures ...
J Leisti, P Aula
exaly   +3 more sources

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Trisomy (1q) (q42→qter): confirmation of a syndrome

Clinical Genetics, 1988
This paper describes for the first time the clinical findings in a case of pure trisomy (1q)(q42→qter). Eight cases involving this trisomy have been reported previously, but these were complicated by additional chromosomal changes, and hence the assignation of a discrete phenotype remained doubtful.
B J Trudinger
exaly   +4 more sources

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
openaire   +3 more sources

Prenatal diagnosis of terminal deletion 1 (q42)

Prenatal Diagnosis, 1992
Dallapiccola B, FERRANTI, Giovanna, Pachì A.   +2 more
core   +4 more sources

Gordon Syndrome (PHA2A, 1q31-q42)

, 2008
openaire   +2 more sources

Terminal deletion of (1)(q42) and its phenotypical manifestations

Human Genetics, 1978
A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental retardation, and cerebral paroxysms caused by a partial ...
M, Andrle, A, Erlach, W R, Mayr, A, Rett
openaire   +2 more sources

MPEC 2023-Q42 : 2023 QZ

2023
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.
openaire   +1 more source

Regional localization of the ovine NRAMP gene to chromosome 2q41→q42 by in situ hybridization

Cytogenetics and Cell Genetics, 2008
The murine Ity/Lsh/Bcg locus belongs to a conserved region between mouse Chromosome 1 and human chromosome 2. This gene governs mouse resistance to several intracellular pathogens. We have localized the gene on sheep chromosome 2q41→q42 by radioactive in situ hybridization using a 2.1-kb fragment of the ovine equivalent of this gene.
Pitel, Frederique, Cribiu, E.P., Yerle, Martine, Lahbib Mansais, Yvette, Lanneluc, I., Lantier, Frédéric, Gellin, Joel   +6 more
openaire   +3 more sources

Reassignment of Human Renin Gene to Chromosome 1q32 in Studies of a (1;4)(q42;p16) Translocation

Human Heredity, 1993
The human renin gene (REN) has been assigned to chromosome 1q42. Linkage studies are, however, inconsistent with this localization. We therefore reexamined the question of the location of REN using a patient whose distal chromosome 1q arm was translocated to chromosome 4 [(1;4)(q42;p16)]. In situ hybridization using a 3H-labelled REN probe demonstrated
H, Qin, Y H, Chen, M Y, Yip, P R, Lam-Po-Tang, B J, Morris   +4 more
openaire   +2 more sources

Assignment of STK6 to human chromosome 20q13.2→q13.3 and a pseudogene STK6P to 1q41→q42

Cytogenetics and Cell Genetics, 2008
Fluorescence in situ hybridization analysis of human STK6 encoding a mitotic centrosomal protein kinase, Aik, revealed two signals in chromosome bands 20q13.2→q13.3 and 1q41→q42. Somatic cell hybrid panel analyses showed the existence of an identical sequence to STK6 cDNA on chromosome 20, and a processed pseudogene on chromosome 1.
M, Kimura, Y, Matsuda, T, Eki, T, Yoshioka, K, Okumura, F, Hanaoka, Y, Okano   +6 more
openaire   +2 more sources