A newborn male infant with multiple congenital abnormalities was found to be trisomic for 3p23----pter and monosomic for 11q23----qter. His parents were both carriers of a balanced reciprocal translocation. Considerable overlap in phenotype-karyotype correlations was found between the two chromosomal syndromes in the patient.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051543 | PMC |
http://dx.doi.org/10.1136/jmg.25.9.631 | DOI Listing |
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