Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism.

Abstract Text

Cri du chat syndrome is associated with a deletion on the short arm of chromosome 5. The main diagnostic feature is a high pitched, cat-like cry which has recently been localised to 5p15.3 and is separate from the remaining clinical features of the syndrome, which have been localised to 5p15.2. The present study describes a family of four who have a deletion slightly distal (5p15.3) to the critical region. Detailed neuropsychological evaluations indicated a similar pattern of cognitive performance to that reported for subjects with typical CDCS but with only minimal intellectual impairment. In addition, in this family the 5p deletion is transmitted in an autosomal dominant fashion, contrasting with most cases of CDCS, which are either de novo or occur as an unbalanced product of a balanced translocation in a normal parent. This study confirms the importance of differentiating between 5p deletions that coincide with the typical cri du chat phenotype which includes severe to profound learning disability and deletions that only delete the distal critical region that coincides with a milder degree of cognitive impairment and a much improved prognosis.

Authors :-, , , ,


Keywords :-, , ,


Mesh Headings :-


Chemical List :-, , , , ,



2016-09-03 07:27:13

Click download button below to get the free Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism. link to pdf of abstract on your facebook profile.

Download Server - Asia Download Server - America Download Server - Europe Download Server - Australia
Citation:- Scholl T, Pyne T, Ward T, Pruss T, .Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism. Journal of medical genetics 1999-Jul;36()571-2 DOI:



Details of Journal

Journal Title - Journal of medical genetics

ISSN - 0022-2593

Volume - 36

Issue - 7

Publish date - 1999-Jul

Language - eng

Country - ENGLAND


SHARE PLEASE -
Read More Similar Articles

Germline mutations in the beta-catenin gene are not associated with the FAP phenotype without an APC mutation.

Dobbie Z, Müller Z, .Germline mutations in the beta-catenin gene are not associated with the FAP phenotype without an APC mutation. Journal of medical genetics 1999-Jul;36()573-4 DOI:.......

Read More

Cornish KM, Cross KM, Green KM, Willatt KM, Bradshaw KM, .A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis. Journal of medical genetics 1999-Jul;36()56.......


Fragile X syndrome with FMR1 and FMR2 deletion.

Moore SJ, Strain SJ, Cole SJ, Miedzybrodzka SJ, Kelly SJ, Dean SJ, .Fragile X syndrome with FMR1 and FMR2 deletion. Journal of medical genetics 1999-Jul;36()565-6 DOI:.......

Read More

Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

Amiel J, Cormier-Daire J, Journeau J, Mussat J, Munnich J, Lyonnet J, .Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome? Journal of medical genetics 1999-Jul;36()561-4 DOI:.......

Read More

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac A, Livet A, Voelckel A, Mancini A, Delaroziere A, .Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.......

Read More

Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome.

Tzancheva M, Kaneva M, Kumanov M, Williams M, Tyler-Smith M, .Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome. Journal of medical genetics 1999-Jul;36()5.......

Read More

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).

Matsuyama Z, Izumi Z, Kameyama Z, Kawakami Z, Nakamura Z, .The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). Journal of medical genetics 1999-J.......

Read More

Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

Richard P, Isnard P, Carrier P, Dubourg P, Donatien P, Mathieu P, .Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with.......

Read More

Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis.

Walker AP, Wallace AP, Partridge AP, Bomford AP, Dooley AP, .Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis. Journal of medical genetics 1999-Jul;36()53.......

Read More