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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Are The Effects Of Chromosome 8 Partial Deletion?

I am just looking for info on chromosome 8 partial deletions. my 3 yr old nephew just had blood work and neuro dr left message that he has missing pieces of chomo 8. my nephew does not talk. he did not walk til he was 16 mths old. Otherwise he is a healthy and very smart baby.
Tue, 2 Sep 2014
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Pediatrician,  's  Response
Thanks for posting your query at HealthCareMagic. Probably your nephew has a deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes' inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons.

You may find more about the condition at http://www.rarechromo.org/information/chromosome%20%208/8p23%20deletions%20ftnp.pdf or http://ghr.nlm.nih.gov/chromosome/8

Hope that will adequately address your query. Feel free to communicate back in case of further queries if any.
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What Are The Effects Of Chromosome 8 Partial Deletion?

Thanks for posting your query at HealthCareMagic. Probably your nephew has a deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and severity from case to case. However, common features include growth deficiency; mental retardation; malformations of the skull and facial (craniofacial) region, such as a small head (microcephaly) and vertical skin folds that may cover the eyes inner corners (epicanthal folds); heart (cardiac) abnormalities; and/or genital defects in affected males. Additional craniofacial features may also be present that tend to become less apparent with age, such as a short, broad nose; a low, wide nasal bridge; and/or a small jaw (micrognathia). In most cases, Chromosome 8, Monosomy 8p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons. You may find more about the condition at http://www.rarechromo.org/information/chromosome%20%208/8p23%20deletions%20ftnp.pdf or http://ghr.nlm.nih.gov/chromosome/8 Hope that will adequately address your query. Feel free to communicate back in case of further queries if any.