Abstract |
The casee presented here may be the first fully identified and verified cas of translocation 4p-- syndrome, a B4/G22 translocation, ie, 45,XX,-4,-22,+t(4q 22q). Thirty-nine other cases of the 4p--syndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p-- (Wolf) syndrome and 5p-- (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation. The newer chromosome banding techniques have made specific identification possible.
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Authors | W R Centerwall, W P Thompson, I E Allen, C D Fobes |
Journal | American journal of diseases of children (1960)
(Am J Dis Child)
Vol. 129
Issue 3
Pg. 366-70
(Mar 1975)
ISSN: 0002-922X [Print] United States |
PMID | 1121968
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, Non-P.H.S.)
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Topics |
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Aberrations
(diagnosis)
- Chromosome Disorders
- Chromosomes, Human, 4-5
- Cri-du-Chat Syndrome
(diagnosis)
- Dermatoglyphics
- Diagnosis, Differential
- Female
- Follow-Up Studies
- Humans
- Karyotyping
(methods)
- Syndrome
- Translocation, Genetic
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