These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Trisomy 17p due to A t(5;17) (p15;p11) pat translocation.
    Author: Jinno Y, Matsuda I, Kajii T.
    Journal: Ann Genet; 1982; 25(2):123-5. PubMed ID: 6984629.
    Abstract:
    A 6-month-old Japanese boy with trisomy 17p, resulting from a paternal balanced translocation t(5;17)(p15;p11), is described. Comparison of his clinical features with those of two previously reported patients with trisomy 17p revealed a characteristic combination of clinical features. They included intra- and extra-uterine growth retardation, developmental retardation, microcephaly, internal hydrocephalus, a facies with lateral displacement of the inner canthi, antimongoloid slanting of the palpebral fissures, a broad nasal bridge, and micrognathism, low-set, large and simple ears, a short and webbed neck, and flexion deformities of the fingers. The external genitalia in the two male patients were characterized by a small penis, undescended testes and a hypoplastic scrotum. Congenital cardiac defect was present in two of the three patients.
    [Abstract] [Full Text] [Related] [New Search]