A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation.

A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation.

The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pr...

书目详细资料
Main Authors:	Brackley, K, Kilby, MD, Morton, J, Whittle, M, Knight, S, Flint, J
格式:	Journal article
语言:	English
出版:	1999

相似书籍

The use of subtelomeric probes to study mental retardation.
由: Knight, S, et al.
出版: (2004)

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.
由: Knight, S, et al.
出版: (2000)

Human subtelomeric probes: applications in practice
由: Kearney, L, et al.
出版: (1998)

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.
由: Horsley, S, et al.
出版: (1998)

Subtelomeric rearrangements and idiopathic mental retardation
由: Regan, R, et al.
出版: (1999)

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
由: De Vries, B, et al.
出版: (2001)

Subtelomeric Rearrangements in Patients with Recurrent Miscarriage
由: Amani Hajlaoui, et al.
出版: (2018-10-01)

Screening for subtelomeric chromosome deletions in children with idiopathic mental retardation
由: Slavotinek, A, et al.
出版: (1997)

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.
由: de Vries, B, et al.
出版: (2001)

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
由: Flint, J, et al.
出版: (1995)

The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome
由: Haochang Hu, et al.
出版: (2019-08-01)

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review
由: Babameto-Laku A., et al.
出版: (2012-12-01)

Human subtelomeric WASH genes encode a new subclass of the WASP family.
由: Elena V Linardopoulou, et al.
出版: (2007-12-01)

"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements
由: Rafati Maryam, et al.
出版: (2012-01-01)

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases
由: Ana Rita Soares, et al.
出版: (2019-08-01)

Detection of Novel Pathogenic Variants in Two Families with Recurrent Fetal Congenital Heart Defects
由: Cai R, et al.
出版: (2023-03-01)

Detection of two chromosomal arrangements in the subtelomeric region of 9q in mentally retarded children.
由: Nokelainen, P, et al.
出版: (1999)

Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies
由: Ercan Mihçi, et al.
出版: (2009-10-01)

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements.
由: Flint, J, et al.
出版: (1996)

Additive Effect of Fetal Magnetic Resonance Imaging to Prenatal Ultrasonography in Fetal Congenital Anomalies
由: Emine Kirtis, et al.
出版: (2024-04-01)

Prenatal diagnosis of congenital anomalies in the era of fetal surgery in Mexico
由: Rogelio Cruz-Martínez
出版: (2020-07-01)

Fetal magnetic resonance imaging in the evaluation of congenital diaphragmatic anomalies
由: Harshavardhan Mahalingam, et al.
出版: (2020-11-01)

Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains.
由: Flint, J, et al.
出版: (1997)

Analysis of subtelomeric virulence gene families in Plasmodium falciparum by comparative transcriptional profiling
由: Witmer, Kathrin, et al.
出版: (2013)

Duplication of subtelomeric regions in an adult with acute monocytic leukemia with an acquired jumping translocation involving 3q13.31-qter
由: Eigil Kjeldsen
出版: (2017-08-01)

Congenital anomalies of kidney and urinary tract (CAKUT) and associated extra-renal anomalies in fetal autopsies
由: Esra Çobankent Aytekin, et al.
出版: (2024-04-01)

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
由: Stewart, DR, et al.
出版: (2004)

Subtelomeric structure of Plasmodium falciparum chromosomes
由: R. Scotti, et al.
出版: (1994-01-01)

Insights into the structure of the subtelomeric chromosome segments
由: Máximo E. Drets
出版: (2000-12-01)

Recurrent pyogenic cholangitis in a case with congenital biliary anomaly
由: Seyfettin Köklü, et al.
出版: (2012-03-01)

Congenital fetal neck anomaly—diagnostic and therapeutic dilemma in low-resource setting: case report
由: Noel Yotamu, MD, MBBS, et al.
出版: (2023-08-01)

Variations of subtelomeric tandem repeats and rDNA on chromosome 1RS arms in the genus Secale and 1BL.1RS translocations
由: Jie Luo, et al.
出版: (2022-04-01)

DDX11L: a novel transcript family emerging from human subtelomeric regions
由: D'Urso Michele, et al.
出版: (2009-05-01)

Useful Genioplasty for Repeated Recurrent Sleep Apnea of Congenital Anomalies and Its Evaluation
由: Hiromi Kino, MD, et al.
出版: (2023-03-01)

Subtelomeric plasticity contributes to gene family expansion in the human parasitic flatworm Schistosoma mansoni
由: T Brann, et al.
出版: (2024-02-01)

Expression analysis of the Theileria parva subtelomere-encoded variable secreted protein gene family.
由: Jacqueline Schmuckli-Maurer, et al.
出版: (2009-01-01)

Identification of a submicroscopic familial 4p;11p translocation using multiple telomere probe FISH analysis
由: Knight, S, et al.
出版: (1997)

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
由: Brockmann Knut, et al.
出版: (2009-03-01)

Spectrum of Fetal Congenital Anomalies: A Hospital-Based Study from North India
由: Nishupriya, et al.
出版: (2022-07-01)

The incidence, maternal, fetal and neonatal consequences of single intrauterine fetal death in monochorionic twins: A prospective observational UKOSS study
由: Morris, RK, et al.
出版: (2020)