Abstract |
We present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter.
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Authors | S S Takeno, M Corbani, J A D Andrade, M de A C Smith, D Brunoni, M I Melaragno |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 129A
Issue 2
Pg. 180-3
(Aug 30 2004)
ISSN: 1552-4825 [Print] United States |
PMID | 15316961
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright 2004 Wiley-Liss, Inc. |
Topics |
- Abnormalities, Multiple
(genetics)
- Adult
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- Chromosome Disorders
(genetics)
- Chromosome Segregation
(genetics)
- Chromosomes, Human, Pair 4
(genetics)
- Female
- Humans
- Intellectual Disability
(genetics)
- Karyotyping
- Male
- Pedigree
- Syndrome
- Translocation, Genetic
(genetics)
- Trisomy
(genetics)
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