[Partial trisomy of the long arm of chromosome 2 by malsegregation of a maternal translocation t(2;7)(q321;p22)].
A patient with partial trisomy 2q due to the malsegregation of a balanced maternal (2;7) translocation is reported. The proposita, who died a few hours after birth, presented the characteristic clinical features: microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils. Her karyotype was 46,XX,der(7),t(2;7)(q321;p22) mat.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle pour le bras long du chromosome 2 par malségrégation d'une translocation t(2;7)(q321;p22) maternelle.