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Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11

100%

Devriendt K., Swillen A., Frints S. G. M., Fryns J. P.

Journal of Applied Genetics

1997

tom 38

nr 1

The phenotypic heterogeneity of the velocardiofacial syndrome (VCFS) or Shprintzen syndrome caused by a chromosomal 22q11 deletion will be discussed. The acronym ’CATCH22’ (Cardiac defects - Abnormal facies - Thymic hypoplasia - Cleft palate - Hypocalcaemia) has been suggested to indicate the associated phenotype. The variable clinical phenotype was previously recognized as DiGcorge syndrome and Shprintzen syndrome, but both are caused by a microdeletion of chromosome 22q11. However, most patients show only partial expression with mild clinical features. Through a sensitive genetic investigation called FISH (Fluorescence in situ hybridization) a diagnostic test of VCFS has become routinely possible, leading to an increased number of patients that are diagnosed. Early diagnosis is very important to recognize associated problems, to initiate adequate treatment and to provide necessary genetic counselling.

Nager type of Acrofacial dysostosis: an example of autosomal dominant transmission with variable expression

88%

Chrzanowska K., Fryns J. P., Krajewska-Walasek M., Van Den Berghe H., Wisniewski L.

Genetica Polonica

1991

tom 32

nr 1-2

Ograniczanie wyników

1 Genetica Polonica

1 Journal of Applied Genetics

2 Fryns J. P.

1 Chrzanowska K.

1 Devriendt K.

1 Frints S. G. M.

1 Krajewska-Walasek M.

1 Swillen A.

1 Van Den Berghe H.

1 Wisniewski L.

1 1997

1 1991

Wyniki wyszukiwania

Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11

Nager type of Acrofacial dysostosis: an example of autosomal dominant transmission with variable expression