Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.
We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techniques. The mother had surgery as a child for a cleft palate and a congenital heart defect, and her facial features were consistent with the diagnosis. The daughter had developmental delay, absent speech, scoliosis, and similar facial features, but no cleft palate or congenital heart defect. These cases illustrate the considerable intrafamilial variability of the phenotype of VCF syndrome. The clinical and molecular diagnosis of this syndrome is discussed. The phenotypic variability of the VCF syndrome means that many cases may be undiagnosed.
Holder
S E
SE
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
Winter
R M
RM
Kamath
S
S
Scambler
P J
PJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009006:Monosomy; D019965:Neurocognitive Disorders / Q000235:genetics; D010641:Phenotype; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000235:genetics* / Q000473:pathology