Results 181 to 190 of about 2,689 (218)

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
openaire   +1 more source

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +6 more sources

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
openaire   +1 more source

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
openaire   +2 more sources

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
openaire   +1 more source

Q42 al-Shūrā (La délibération)

, 2019
volume 1. Études sur le contexte et la génèse du texte coranique -- volume 2a. Commentaire et analyse du texte coranique : sourates 1-26 -- volume 2b.
Boisliveau, Anne-Sylvie
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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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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.
openaire   +1 more source