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June 1994

Case 2

Author Affiliations

Contributed from the Genetics Unit and Cytogenetics Laboratory, The Brooklyn (NY) Hospital Center (Drs David and Puno and Ms Rubenstein), and the Vivigen Laboratory, Santa Fe, NM (Dr Lamb and Mr Lytle).

Arch Pediatr Adolesc Med. 1994;148(6):613-614. doi:10.1001/archpedi.1994.02170060067013

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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