PMID: 489010Sep 1, 1979Paper

Cytogenetic and clinical studies in five cases of inv dup(15)

Human Genetics
L P WisniewskiJ V Higgins

Abstract

Inv dup(15) is a clinically significant bisatellited derivative of chromosome 15. Five unrelated patients with this abnormality are described and compared with ten confirmed and nine suspected cases in the literature. Mental and developmental retardation, hypotonia, behavioral disturbances, seizures, abnormal dermatoglyphics, and mild somatic anomalies were the most consistent findings. The extra chromosomes in our patients were identified with the aid of various techniques, including distamycin A/DAPI banding. A comparison of satellite polymorphisms suggested that the rearrangements frequently arose by meiotic nonsister chromatid exchange and second-division nondisjunction. A maternal origin was indicated in two cases, and parental ages were distinctly elevated.

References

Aug 1, 1977·Electroencephalography and Clinical Neurophysiology·J ClausenA Lidsky
Apr 15, 1976·Human Genetics·M MikkelsenH Poulsen
Jul 7, 1976·Human Genetics·R A Pfeiffer, E Kessel
Oct 1, 1975·Thorax·D WheatleyJ M Reid
Jan 1, 1975·Human Heredity·W R Centerwall, J P Morris
May 13, 1972·Lancet·C E Parker, O S Alfi
Dec 23, 1972·Lancet·R E MagenisF Hecht
Jun 2, 1973·Lancet·W BucherO S Alfi
Jun 30, 1971·Nature: New Biology·W R BregP W Allderdice
Dec 1, 1974·Journal of Medical Genetics·E J Watson, R R Gordon
Oct 1, 1970·Experimental Cell Research·T CasperssonC Johansson

❮ Previous
Next ❯

Citations

Jan 1, 1983·Human Genetics·P SteinbachM Wolf
Jun 1, 1986·Human Genetics·M A Martín-LucasJ A Abrisqueta
Jan 1, 1985·Human Genetics·K E BucktonH J Evans
Dec 1, 1996·European Child & Adolescent Psychiatry·T MartinssonJ Wahlström
Aug 1, 1994·Journal of Autism and Developmental Disorders·P BakerS Patil
Feb 1, 1995·Journal of Autism and Developmental Disorders·M Hotopf, P Bolton
May 1, 1993·Cancer Genetics and Cytogenetics·C A MoertelR B Jenkins
Sep 1, 1996·Pediatric Neurology·P M BinghamP F Chance
Feb 16, 2002·Clinical Genetics·F Z BoyarD J Driscoll
Jun 1, 1984·Journal of Medical Genetics·J M Connor, D H Gilmore
Jun 1, 1984·Journal of Medical Genetics·D H GilmoreJ M Connor
Apr 1, 1988·Journal of Medical Genetics·T J HerweijerN J Leschot
Aug 1, 1994·Journal of Medical Genetics·T Webb
Nov 19, 2013·European Journal of Medical Genetics·Essam Al AgeeliAlain Verloes
Apr 11, 2012·Journal of Neuropathology and Experimental Neurology·Jerzy WegielThomas Wisniewski
Oct 29, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Agatino BattagliaRaffaella Tancredi
Jun 4, 2014·The Journal of Obstetrics and Gynaecology Research·Taro NonakaKoichi Takakuwa
Jun 13, 1998·American Journal of Human Genetics·A E WandstratS Schwartz
Oct 16, 2015·Acta Neuropathologica Communications·Jerzy WegielW Ted Brown
Oct 1, 1987·Acta Paediatrica Japonica; Overseas Edition·T SakiyamaY Nakagome
Jun 14, 2000·Seizure : the Journal of the British Epilepsy Association·Y TakedaT Koyama
Jan 1, 1980·Human Genetics·J Chamberlin, R E Magenis
Aug 22, 1997·American Journal of Medical Genetics·R C MichaelisM C Phelan
Apr 17, 1998·American Journal of Medical Genetics·R J SchroerR E Stevenson
Jul 18, 2000·American Journal of Medical Genetics·C M WolpertM A Pericak-Vance
Feb 3, 2004·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Kumudini Nair-MirandaJoachim Hallmayer
Dec 26, 2001·American Journal of Medical Genetics·K AkahoshiR A Spritz
Oct 1, 1998·American Journal of Medical Genetics·S RineerE W Simon
Dec 18, 2013·Yonsei Medical Journal·Jung Hye ByeonBaik-Lin Eun
Jul 1, 1986·Prenatal Diagnosis·P MinyI H Pawlowitzki
Sep 1, 1986·American Journal of Medical Genetics·R L Murdock, D H Wurster-Hill

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.