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A female infant with hypotonia, developmental delay, transitional hearing loss and 22q13.1 deletion |
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Chulaluck Techakittiroj, Hans Andersson, Kelly Jackson, Chris Dvorak and Marilyn Li |
| [Abstract] [Full Text] [PDF]
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Chromosome 22q13 deletion syndrome (MIM 606232) is associated with global developmental delay, generalized hypotonia, absent or severely delayed speech, normal to accelerated growth, and specific facial features. We report a female infant with persistent hypotonia, transitional hearing loss, developmental delay, specific facial features, and a terminal deletion of chromosome 22q13.1. Parental chromosomal studies demonstrated that the deletion was de novo. Most clinical features of the patient were similar to those of the previously reported patients with 22q13 deletion, but some of them such as hypoplastic toenails were unique. The phenotype variation in patients with 22q13 deletion could be attributed to different deletions that vary in size and involve overlapping but diverse genomic segments.
Key words: 22q13 deletion; developmental delay; hypotonia; hearing loss; FISH
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