| Title | A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. | | Author(s) | Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster-Hill DH | | Institution | Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, N.H. 03756. | | Source | Clin Genet 1992 Jan; 41(1):54-6. | | MeSH | Abnormalities, Multiple
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 17
Clubfoot
Face
Female
Hand Deformities, Congenital
Humans
Hypertelorism
Infant, Newborn
Mental Retardation
Phenotype
| | Abstract | We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 1633649 |
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