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Case 2

Karen L. David, MD; Corazon Puno, MD; Carole Rubenstein, MS; Christian Lytle; Allen Lamb, PhD
Arch Pediatr Adolesc Med. 1994;148(6):613-614. doi:10.1001/archpedi.1994.02170060067013.
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A 2550-G, MALE NEWBORN, 36 weeks of gestational age, was noted to have mild facial dysmorphism and was referred for a genetic evaluation. A sibling was said to have a chromosomal abnormality. These are indications for chromosomal analysis. A peripheral blood sample was obtained from the newborn, and cytogenetic procedures followed. All metaphase cells analyzed by routine trypsin-Giemsa banding suggested an interchromosomal insertional translocation (Figure 1). This impression was elegantly confirmed by fluorescence in situ hybridization (FISH) technique (Figure 2).

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