Results 171 to 180 of about 14,847 (202)

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
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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.
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Dup(lq)(q42→qter) syndrome: Case report and review of literature

American Journal of Medical Genetics, 1993
AbstractWe 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 ...
Ingo Kennerknecht, Gotthold Barbi, Klaus Rodens   +2 more
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Regional localization of the ovine NRAMP gene to chromosome 2q41→q42 by in situ hybridization

Cytogenetic and Genome Research, 1995
The murine <i>Ity/Lsh/Bcg</i> 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
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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
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Increased frequencies of sister chromatid exchanges at common fragile sites (1)(q42) and (19)(q13)

Human Genetics, 1989
Human lymphocyte cultures were treated with 5-azadeoxycytidine for the induction of the common fragile sites at 1q42 and 19q13 and with 5-bromodeoxyuridine for differential sister chromatid staining. A remarkably high frequency of sister chromatid exchanges was observed directly at the gaps of both fragile sites.
W, Feichtinger, M, Schmid
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Assignment of STK6 to human chromosome 20q13.2→q13.3 and a pseudogene STK6P to 1q41→q42

Cytogenetic and Genome Research, 1997
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
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Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter

American Journal of Medical Genetics, 2001
We report on a girl with a trisomy 1q42-q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH.
DE BRASI D, ROSSI E, GIGLIO, SABRINA RITA, D'AGOSTINO A, TITOMANLIO L, FARINA V, ANDRIA G, SEBASTIO G.   +7 more
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Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature

Clinical Genetics, 1992
Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D. Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature. Clin Genet 1992:41:25–27.We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal interstitial del (1) (q32 q42).
P, Sarda, G, Lefort, S, Taviaux, C, Humeau, D, Rieu   +4 more
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Partial trisomy 1 (q42 leads to ter).

Clinical genetics, 1981
Clinical findings on three closely related, severely malformed infants and a 20-week-old fetus with an identical partial trisomy of chromosome 1 (1q42 leads to 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 ...
J, Leisti, P, Aula
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