Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An additional small G-like chromosome was found in a six-months old male with multiple congenital anomalies and marked mental retardation. GTG banding revealed that the index patient was trisomic 16 q1100 leads to pter. In the bibliographical review a few cases of partial trisomy of chromosome 16 have been reported so far, but only two of them affect the same chromosomic region of our case, and only one of them is "de novo", like ours: this one would be the first case in the spanish bibliography, according to our knowledge. The clinical findings in our patient are similar to the other two cases published: our purpose is to contribute with a new case to delimitate what seems to be a definite phenotypical outline associated with trisomy 16p. The two patients early reported were females, the propositus is the first case of trisomy 16p reported in a male liveborn with genital anomalies.
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PMID:["De novo" partial trisomy 16p (author's transl)]. 733 11

This report concerns the case of a boy with partial trisomy 16p resulting from the insertional translocation of the short arm of chromosome 16 into the long arm of chromosome 1 in his father. He was referred for genetic testing because of mental retardation, short stature, microcephaly, seizures and multiple dysmorphic features. Chromosome analysis performed in the child demonstrated the presence of additional material in the long arm of chromosome 1. Paternal high resolution chromosome analysis and fluorescence in situ hybridisation revealed the following karyotype: 46,XY,ins(1;16)(q42;p13.1p13.3), while the karyotype of the boy is 46,XY,der(1),ins(1;16)(q42;p13.1p13.3)pat. This is the first reported case of partial trisomy 16p due to paternal insertional translocation.
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PMID:A case of insertional translocation resulting in partial trisomy 16p. 1116 94