Tag Archives: #autosomalrecessive

Ashkenazi Jewish Genetic Diseases – Nemaline Myopathy 2

ashkenazi-nemaline

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc..

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Nemaline Myopathy 2 is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 149) and affects

(1 in 88,000) pregnancies.

Nemaline Myopathy 2: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Nemaline Myopathy 2 is characterized by muscle weakness and decreased tone often involving the face and neck, problems with feeding and respiration problems. Severe cases may present by early childhood but often symptoms progress more slowly.

http://www.buildingstrength.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

Nemaline Myopathy 2

nemaline

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc..

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Nemaline Myopathy 2 is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 149) and affects

(1 in 88,000) pregnancies.

Nemaline Myopathy 2: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Nemaline Myopathy 2 is characterized by muscle weakness and decreased tone often involving the face and neck, problems with feeding and respiration problems. Severe cases may present by early childhood but often symptoms progress more slowly.

http://www.buildingstrength.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

Ashkenazi Jewish Genetic Diseases – Mucolipidosis Type IV

ashkenazi-mucolipidosis

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Mucolipidosis Type IV is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 122) and affects

(1 in 59,000) pregnancies.

Mucolipidosis Type IV: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Mucolipidosis Type IV is usually present in infancy with visual impairment and developmental delay with variable progression. Cerebral palsy-like findings often delay diagnosis.

http://www.ml4.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012

Mucolipidosis Type IV

mucolipidosis

© 2016            

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Mucolipidosis Type IV is an Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 122) and affects

(1 in 59,000) pregnancies.

Mucolipidosis Type IV: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Mucolipidosis Type IV is usually present in infancy with visual impairment and developmental delay with variable progression. Cerebral palsy-like findings often delay diagnosis.

http://www.ml4.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • *Full Panel – 18 Diseases – (One company is running a 3 part Ashkenazi panel that has up to 39 diseases)

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

Cystic Fibrosis

ashkenazi-cystic-fibrosis

© 2016, GENASSIST, Inc.          

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/ Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

Cystic Fibrosis Disease is a common Ashkenazi Jewish inherited disease with a carrier frequency of (1 in 25) and affects (1 in 2500) pregnancies. Cystic Fibrosis is the most common disease in the Caucasian population with a carrier rate of (1 in 25).

Cystic Fibrosis Disease: Autosomal recessive inheritance (25% if both parents are gene carriers) has been described.

Cystic Fibrosis Disease is characterized by the disruption of endocrine function in the pancreas, intestinal glands, bronchial and sweat glands and susceptibility to lower gastrointestinal problems.

http://www.cff.org/

*The Ashkenazi Jewish Screen is available in a variety of Panels:

  • Basic Panel – 3 Diseases
  • Expanded Panel – 8 Diseases
  • Full Panel – 18 Diseases

*The Full Panel is now also part of many Microarray Panels that can test for over 100 diseases.

The Jewish population is the United States as of 2012 was 6,543,820 making up 2.1% of the entire U.S. population (1).

The Ashkenazi Jewish Inherited Disease Panel was created to help screen for specific ethnic inherited diseases. Preconceptional testing is suggested to help identify or rule-out the parents as being carriers.

(1) US Census Bureau, Statistical Abstract of the United States, 2012 

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