25-33 Loss of ventilary response to high CO2 and low O2, also in combination with Hirschsprung disease (Haddad)

25 Malformation of midline structures of the forebrain and facial cranium

Blepharophimosis-ptosis-epicanthus GCG FOXL2 14 22-24 Blepharophimosis, ptosis, epicanthus inversus and ovarian failure inversus syndactyly 110100

Figure 7.9 Polyalanine tract expansion disorders. Congenital malformation syndromes associated with (GCG)n expansions. The majority involve genes encoding transcription factor proteins. Adapted and reprinted from Albrecht and Mundlos (2005), copyright 2005, with permission from Elsevier.

Figure 7.10 Fragile site in a marker X chromosome. Example of secondary constriction at the end of the long arm of X chromosome observed by Lubs in a mentally retarded male. Reprinted from Lubs (1969), copyright 1969,with permission from Elsevier.

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