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Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.
J Med Genet. 1993 Oct; 30(10):825-7.JM

Abstract

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.

Authors+Show Affiliations

Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8230158

Citation

Holder, S E., et al. "Velocardiofacial Syndrome in a Mother and Daughter: Variability of the Clinical Phenotype." Journal of Medical Genetics, vol. 30, no. 10, 1993, pp. 825-7.
Holder SE, Winter RM, Kamath S, et al. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet. 1993;30(10):825-7.
Holder, S. E., Winter, R. M., Kamath, S., & Scambler, P. J. (1993). Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. Journal of Medical Genetics, 30(10), 825-7.
Holder SE, et al. Velocardiofacial Syndrome in a Mother and Daughter: Variability of the Clinical Phenotype. J Med Genet. 1993;30(10):825-7. PubMed PMID: 8230158.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. AU - Holder,S E, AU - Winter,R M, AU - Kamath,S, AU - Scambler,P J, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 825 EP - 7 JF - Journal of medical genetics JO - J Med Genet VL - 30 IS - 10 N2 - 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. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/8230158/Velocardiofacial_syndrome_in_a_mother_and_daughter:_variability_of_the_clinical_phenotype_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=8230158 DB - PRIME DP - Unbound Medicine ER -