X-linked mental retardation associated with bilateral clasp thumb anomaly

American Journal of Medical Genetics
F J Gareis, J D Mason

Abstract

We report on a family in which mental retardation is associated with a bilateral clasp-thumb anomaly (absent extensor pollicis brevis tendons). Males over 3 generations were documented to have this combination of findings and pedigree analysis strongly suggests X-linked inheritance. We are not aware of previous reports of X-linked mental retardation (XLMR) associated with this anomaly. There was no evidence of a fragile X in the 2 brothers who were studied for this abnormality.

References

Dec 1, 1975·Journal of Medical Genetics·G TurnerB Turner
Jun 1, 1974·Journal of Medical Genetics·G Turner, B Turner
Jan 1, 1980·American Journal of Medical Genetics·G Turner, J M Opitz
Oct 1, 1961·Archives of Disease in Childhood·J H EDWARDS

❮ Previous
Next ❯

Citations

Jul 12, 2001·Clinical Dysmorphology·P N KantaputraP Visrutaratna
Feb 1, 1986·Journal of Medical Genetics·J HallidayD M Danks
Jun 1, 1989·Journal of Medical Genetics·E M ThompsonM Baraitser
Nov 1, 1990·Journal of Medical Genetics·C Schrander-StumpelJ J Cassiman
Jun 1, 1991·Journal of Medical Genetics·I A Glass
Jan 1, 1996·Journal of Medical Genetics·S KenwrickD Donnai
Jul 1, 1992·European Journal of Pediatrics·F ServilleM Le Merrer
Oct 1, 1990·Genomics·P J WillemsS T Warren
Jan 1, 1984·American Journal of Medical Genetics·J M Opitz, G R Sutherland
Jul 1, 1994·Nature Genetics·L VitsC Schrander-Stumpel
Jun 15, 1991·American Journal of Medical Genetics·C StollA Chauvin
Jan 1, 1986·American Journal of Medical Genetics·J M OpitzL M Spano
Aug 1, 1987·American Journal of Medical Genetics·P J WillemsJ Wilmink
Oct 1, 1991·American Journal of Medical Genetics·M RietschelK Zerres
Apr 1, 1992·American Journal of Medical Genetics·V R MaciasG N Wilson
Feb 1, 1991·American Journal of Medical Genetics·J F Arena, H A Lubs
Mar 1, 1992·Journal of Medical Genetics·A García-AlixJ Quero
Aug 1, 1992·Clinical Genetics·C Schrander-Stumpel, J P Fryns

❮ 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.

© 2021 Meta ULC. All rights reserved