Variable phenotypes in velocardiofacial syndrome with chromosomal deletion

Beth Motzkin, Robert W. Marion, Rosalie Goldberg, Robert Shprintzen, Paul Saenger

Research output: Contribution to journalArticle

78 Citations (Scopus)

Abstract

Velocardiofacial syndrome (VCF) has overlapping features with DiGeorge sequence; both result from a developmental field defect and probably represent contiguous gene deletion syndromes. The association of chromosome 22q11 deletion with DiGeorge sequence led us to do molecular analysis of chromosome 22 in 18 patients with VCF, who ranged in age from 6 to 42 years. All 18 patients had monosomy for the chromosome region 22q11. Retrospectively, we correlated the presence of the deletion with various clinical findings: 100% had cleft palate, 67% the facial phenotype, 83% cardiac disease, 94% learning disabilities, 70% ophthalmologic findings, 50% short stature, 22% psychiatric disorders, and 17% hypocalcemia. Both severely phenotypically affected and mildly affected patients had the deletion. These findings stress the importance of continued surveillance of all patients with VCF for the many medical problems that may not be present at initial diagnosis. We conclude that the presence of the gene deletion does not predict the phenotypic expression in VCF. Further studies to characterize the size of the gene deletion may facilitate better prediction of the phenotype.

Original languageEnglish (US)
Pages (from-to)406-410
Number of pages5
JournalThe Journal of Pediatrics
Volume123
Issue number3
DOIs
StatePublished - 1993

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DiGeorge Syndrome
Phenotype
Gene Deletion
Monosomy
Chromosomes, Human, Pair 22
Chromosome Deletion
Hypocalcemia
Learning Disorders
Cleft Palate
Psychiatry
Heart Diseases
Chromosomes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. / Motzkin, Beth; Marion, Robert W.; Goldberg, Rosalie; Shprintzen, Robert; Saenger, Paul.

In: The Journal of Pediatrics, Vol. 123, No. 3, 1993, p. 406-410.

Research output: Contribution to journalArticle

Motzkin, Beth ; Marion, Robert W. ; Goldberg, Rosalie ; Shprintzen, Robert ; Saenger, Paul. / Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. In: The Journal of Pediatrics. 1993 ; Vol. 123, No. 3. pp. 406-410.
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