Monday, August 13, 2012

Trisomy 14q 32.33

Both of our children have a rare genetic disease (we are told that we are the only known case) They have Duplication chromosme 14q32.33. It took us five years to get the diagnosis.

A chromosome 14 duplication is a rare condition caused by an extra segment of genetic materials from one of the body’s 46 chromosomes, resulting in extra copies of the genes present on that segment. The correct amount of genetic material is needed for normal growth and development.

widely spaced eyes, congenital heart defects, dental problems, mental retardation, growth problems, developmental delays, liver abnormalities, asthma, blocked nasal passages requiring corrective surgery (choanal atresia), an immune deficiency, a large VSD and genital anomalies In some cases, the hands had slightly unusual features, including a single palm crease, short or tapered fingers;Development was also affected, with moderate delays in mobility, low muscle tone (hypotonia) and walking achieved in the second or third years In babies with large 14q duplications, incurving of the fifth finger and overlapping fingers and toes have been seen and one baby had talipes calcaneovalgus (clubfeet), a positional deformity in which the feet point outwards and downwards. Among the unusual facial features observed were a prominent forehead, a prominent nose, a small chin and lower jaw, unusual ears, a protruding upper lip, a high forehead, fontanelles (soft spots on top of the head) that were slow to close, downslanting, widely spaced eyes and possibly sparse hair growth.

CGH ARRAY diagnosis trisomy chr 14q32.33

Treat each problem as it occurs.
No further information is available

Our Story:
Vanessa and Jacob Jennings are brother and sister that share more than blood, they both have Trisomy 14q 32.33, a very rare genetic disorder. So far they are the only known case of it.

Contributed by MOM Barbara- Read more about Vanessa and Jacob

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