Premium
Molecular characterization of trisomic segment 3p24.1→3pter: a case with review of the literature
Author(s) -
Conte Robert A.,
Pitter Jean H.,
Verma Ram S.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04054.x
Subject(s) - trisomy , hypertelorism , chromosomal translocation , genetics , psychomotor retardation , biology , aneuploidy , chromosome , karyotype , medicine , pathology , alternative medicine , gene
A 1‐year‐old male infant was found to have a de novo unbalanced translocation, resulting in trisomy for a portion of the short arm of chromosome 3, i.e. 46,XY,der(7)t(3;7) (p24.1;p22). Previous cases with a so‐called “trisomy 3p syndrome” were evaluated by GTG banding, while we attempted to characterize the present case by the FISH‐technique. The major clinical features included: dysmorphic ears, decreased muscle tone and seizure episodes associated with fever, which are concordant with “trisomy 3p syndrome”. The most common malformations of trisomy 3p syndrome are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and congenital heart defects. Predominantly, the 3p trisomies have been maternally derived and the major mechanism of inheritance is due to a malsegregation of the chromosomes that are involved in a parental balanced translocation. A review of 44 cases from 35 studies revealed that the clinical manifestations have been quite varied, depending upon the amount of 3p2 material in the trisomic state, but interestingly a recognizable pattern of features was obvious in those cases whose cytogenetic findings and clinical histories were known.