Further delineation of the 22q13 deletion syndrome

Autor: Lindquist, Suzanne Granhøj, Kirchhoff, Marianne, Lundsteen, C, Pedersen, W, Erichsen, Gunna, Kristensen, K, Lillquist, K, Smedegaard, Heidi, Skov, L, Tommerup, Nanna Maj, Brøndum-Nielsen, Karen, Kristensen, Kurt

Publikováno v: Lindquist, S G, Kirchhoff, M, Lundsteen, C, Pedersen, W, Erichsen, G, Kristensen, K, Lillquist, K, Smedegaard, H, Skov, L, Tommerup, N M, Brøndum-Nielsen, K & Kristensen, K 2005, ' Further delineation of the 22q13 deletion syndrome ', Clinical Dysmorphology, vol. 14, no. 2, pp. 55-60 .

A chromosomal deletion syndrome associated with a 22q13 microdeletion has previously been reported in approximately 75 children. We report six cases from Denmark with a deletion of 22q13. One was cytogenetically visible by conventional karyotyping, o

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