Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (MAPT). Mutation screening of MAPT in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p< 10(25)). Conclusion: Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.

Equal Rights Amendment South Carolina Coalition Records - Accession 693

The Equal Rights Amendment South Carolina Coalition Records consist of pamphlets, membership listings, newsletters, bulletins, interstate correspondence, legislation positions, polls, newspaper clippings, article reprints, general correspondence and various memorabilia to the attempt to obtain South Carolina ratification of the passage of Equal Rights Amendment. The Equal Rights Amendment (ERA) was a proposed amendment to the United States Constitution designed to guarantee equal rights for women.

Annual report of the Secretary of Internal Affairs of the Commonwealth of Pennsylvania.

State printer varies.

Annual report of the Secretary of Internal Affairs of the Commonwealth of Pennsylvania for the year ending ..

Description based on: 1877.

Annual report of the secretary of internal affairs ...

1886-96, pt. I includes State weather service and Vital statistics.

Prevención de Picadura de Mosquitos en Carolina del Sur

This sheet, printed in Spanish gives tips on repelling mosquitoes including: what you wear is important, buying the right repellent and using it correctly and using special care when applying repellents to children and babies.

Legislative news

The South Carolina Department of Mental Health publishes on a bi-weekly basis Legislative News, with information on bills that are introduced which may impact the agency, mental health or health care issues, and employee issues.

South Carolina’s Employment Situation-April 2016

The South Carolina Department of Employment and Workforce publishes news releases with monthly statistics about the employment situation of the state, including unemployment rate, employment by industry, and local area unemployment by county and MSA.

South Carolina tobacco directory

This tobacco directory list tobacco products sold in South Carolina by name, company name, original certification date, action type and agreement type.

South Carolina tobacco directory

This tobacco directory list tobacco products sold in South Carolina by name, company name, original certification date, action type and agreement type.

Mosquito Vectors of Zika Virus and Their Control

This powerpoint presentation describes the way that Zika is spread by mosquitoes. It shows places that mosquitoes breed, ways to control their breeding, establishing a mosquito control program and shows various mosquito repellents.

Poor quality specimens delay detection of blood disorders in newborns

This sheet describes the right way to take a blood sample from a newborn infant.

Let your voice be heard : a guide to services available to empower victims of domestic violence : Lowcountry

This brochure gives directions on how to leave an abusive relationship. It also has a list of community resources and hotlines (by county) available to victims of domestic violence in the lowcountry region of South Carolina.

Let your voice be heard : a guide to services available to empower victims of domestic violence : Pee Dee

This brochure gives directions on how to leave an abusive relationship. It also has a list of community resources and hotlines (by county) available to victims of domestic violence in the Pee Dee Region of South Carolina.

Let your voice be heard : a guide to services available to empower victims of domestic violence : Upstate

This brochure gives directions on how to leave an abusive relationship. It also has a list of community resources and hotlines (by county) available to victims of domestic violence in the upstate region of South Carolina.