12q Interstitial Deletion with Bilateral Cleft Lip and Palate: Case Report and Literature Review
2008 ◽
Vol 45
(3)
◽
pp. 325-328
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Keyword(s):
The authors report the case of a Japanese girl with interstitial deletion of chromosome 12q15–q21.2 who had multiple congenital anomalies including bilateral cleft lip and palate (BCLP) with intrauterine onset of growth retardation and severe psychomotor developmental delay. Only two other patients with a similar deletion have been reported previously. However, these two patients showed such different clinical features that defining the karyotype-phenotype correlation has remained unfeasible. The additional case presented here reveals that two of the three cases with an overlapping deletion in 12q show the phenotype of BCLP, suggesting the correlation between this area of gene deletion and cleft lip and palate.
Keyword(s):
2015 ◽
Vol 17
(2)
◽
pp. 75
Keyword(s):
A Case Report of Multidisciplinary Treatment of an Adult Patient with Bilateral Cleft Lip and Palate
2014 ◽
Vol 51
(6)
◽
pp. 711-721
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2006 ◽
Vol 43
(2)
◽
pp. 237-243
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Keyword(s):
2018 ◽
pp. 005-009
Keyword(s):
2022 ◽
Vol 4
(4)
◽
pp. 154-157
Keyword(s):
Keyword(s):
2007 ◽
Vol 65
(9)
◽
pp. 43.e115
Keyword(s):