Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 Katja Grohmann, Thomas.

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Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 Katja Grohmann, Thomas F. Wienker, Kathrin Saar, Sabine Rudnik-Schöneborn, Gisela Stoltenburg-Didinger, Rainer Rossi, Giuseppe Novelli, Gudrun Nürnberg, Arne Pfeufer, Brunhilde Wirth, André Reis, Klaus Zerres, Christoph Hübner The American Journal of Human Genetics Volume 65, Issue 5, Pages 1459-1462 (November 1999) DOI: 10.1086/302636 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotypes in families with diaphragmatic SMA subtypes. A, Family 1 (Lebanese origin): age at onset, 6–10 wk. B, Family 2 (German origin): age at onset, 9–12 wk. C, Family 3 (Italian origin): onset at birth. Haplotype analysis indicated that the cosegregating segment of the SMARD locus is flanked proximally by marker D11S1883 and distally by marker D11S917. Family 3 has no linkage to the SMARD locus. Blackened squares represent affected males; unblackened squares, unaffected males; blackened circles, affected females; unblackened circles, unaffected females; double line (in A), consanguinity. The American Journal of Human Genetics 1999 65, 1459-1462DOI: (10.1086/302636) Copyright © 1999 The American Society of Human Genetics Terms and Conditions