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Chromosome 3q29 deletion with gastrointestinal malformation: a case report.

Masarweh M - J Med Case Rep (2011)

Bottom Line: Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities.Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations.We need to investigate a patient fully to find such hidden clinical features.

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Affiliation: King Hussein Cancer Centre, Amman, Jordan. mmasarweh@khcc.jo.

ABSTRACT

Introduction: Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported.

Case presentation: A three-month-old female Jordanian baby presented with an absent anus and corneal opacities and was referred for further management after a diverting colostomy operation at the age of one day.

Conclusion: Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations. We need to investigate a patient fully to find such hidden clinical features.

No MeSH data available.


Related in: MedlinePlus

Chromosomal analysis.
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Figure 2: Chromosomal analysis.

Mentions: A micturating cysto-urethrogram confirmed the common channel of the deformity. Ultrasonography of the abdomen was normal. Skeletal survey and brain magnetic resonance imaging results were normal. A chromosomal analysis was carried out, involving 20 CTG-banded cells from two cultures, and five cells were karotyped and photographed, showing 46,XX,del(3)(q29) (Figure 2).


Chromosome 3q29 deletion with gastrointestinal malformation: a case report.

Masarweh M - J Med Case Rep (2011)

Chromosomal analysis.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3141721&req=5

Figure 2: Chromosomal analysis.
Mentions: A micturating cysto-urethrogram confirmed the common channel of the deformity. Ultrasonography of the abdomen was normal. Skeletal survey and brain magnetic resonance imaging results were normal. A chromosomal analysis was carried out, involving 20 CTG-banded cells from two cultures, and five cells were karotyped and photographed, showing 46,XX,del(3)(q29) (Figure 2).

Bottom Line: Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities.Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations.We need to investigate a patient fully to find such hidden clinical features.

View Article: PubMed Central - HTML - PubMed

Affiliation: King Hussein Cancer Centre, Amman, Jordan. mmasarweh@khcc.jo.

ABSTRACT

Introduction: Most chromosome 3 deletions are associated with neuro-developmental and eye abnormalities. Here, we report a rare and unusual multiple congenital abnormality, including ano-rectal malformation, in conjunction with chromosome 3q29 segment deletion, which has not previously been reported.

Case presentation: A three-month-old female Jordanian baby presented with an absent anus and corneal opacities and was referred for further management after a diverting colostomy operation at the age of one day.

Conclusion: Chromosome 3q29 deletion is associated with additional abnormalities to neurological ones, such as ano-rectal malformations. We need to investigate a patient fully to find such hidden clinical features.

No MeSH data available.


Related in: MedlinePlus