ArticleIndian journal of human genetics2014
Phenotypical characterization of 13q deletion syndrome: Report of two cases.
Article in Indian journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.American journal of human genetics · 2015Article
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4 authors at 1 institution in 1 country.
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Abstract
Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.
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