Electronic letters
Duplication of medial 15q confirmed by FISH
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The proband was a male infant born to a 28 year old mother and 24 year old father. The parents were healthy and
non-consanguineous. There was no significant family history. The
pregnancy was complicated by intrauterine growth retardation. At term,
birth weight was 2300 g and bilateral talipes were noted, as were a
number of dysmorphic features. These included an enlarged anterior
fontanelle with widely spaced sutures, downward slanting palpebral
fissures, a flat occiput, a smooth philtrum, prominent nasal bridge,
fleshy nasal tip, prominent forehead, and micrognathia (fig 1A). Deep creases were noted on both hands and feet, and the second, third, and
fourth fingers of both hands were unusually long (fig 1B, C). The
infant suffered from respiratory complications and failure to thrive.
Further investigations showed hypothyroidism and a vascular ring (which
was subsequently repaired). At 8 months old he had occasional feeding
difficulties and moderate growth retardation.
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