[Partial trisomy for the long arm of chromosome 2 due to malsegregation of a maternal insertion : ins(6;2)(p22;q24q34)].
A 6p+ chromosome was observed in a dysmorphic and mentally retarded child. The mother was found to be carrier of an insertion: ins(6;2) (p22;q24;q34). The patient was therefore trisomic for 2q24 leads to 2q34. The same insertion was found in his brother in the balanced state. A comparison of this observation and four other cases from the literature allows a description of the symptoms characteristic of trisomy 2q24 leads to 2q34 : mid-face hypoplasia, carp-shaped mouth, neurological disorders, severe mental retardation.
D002648:Child; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D014314:Trisomy
Trisomie partielle pour le bras long du chromosome 2 par malségrégation d'une insertion maternelle : ins(6;2)(p22;q24q34).