| Title | 7p deletion syndrome: an adult with mild manifestations. | | Author(s) | Grebe TA, Stevens MA, Byrne-Essif K, Cassidy SB | | Institution | Section of Genetics/Dysmorphology, University of Arizona, Tucson. | | Source | Am J Med Genet 1992 Sep 1; 44(1):18-23. | | MeSH | Abnormalities, Multiple
Adult
Child
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 7
Craniosynostoses
Female
Hand Deformities, Congenital
Humans
Karyotyping
Male
Mental Retardation
Syndrome
| | Abstract | Deletion of 7p results in a wide spectrum of congenital abnormalities and minor facial and hand anomalies, often including craniosynostosis. We report on the oldest recognized patient with this disorder, a 24-year-old woman with an interstitial deletion from p15.3-p21.2 or p21.3. The manifestations in this patient are milder than those of previously described patients, and include borderline mental retardation, short stature, minor facial anomalies, and several skeletal changes. The absence of craniosynostosis in this patient is noteworthy, given previous suggestions that there is a specific locus for this finding in the 7p region. Twelve cases of 7p deletion, in which the missing segment overlaps that of the current case, are reviewed. This case delineates a broader spectrum for patients with 7p deletion syndrome. | | Language | eng | | Pub Type(s) | Journal Article
Research Support, Non-U.S. Gov't
| | PubMed ID | 1519644 |
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