Partial trisomy 13q inherited from balanced translocation (5;13) (p14;q13)

A girl with multiple congenital malformations was found to have an abnormal karyotype: 46,XX,t(5;13) (13pter leads to 13q13 : : 5p14 leads to 5qter), meaning that she is monosomic for the distal part of the short arm of chromosome No. 5 (from 5pter to 5p14) and trisomic for the long arm of chromosome No. 13 (from 13q13 to 13qter). The proband's father is a carrier of a balanced reciprocal translocation: 46, XY, t(5;13) (p14;q13) (13qter leads to 13q13 : : 5p14 leads to 5qter; 13pter leads to 13q13 : : 5p14 leads to 5pter). Therefore, the propositus' abnormal karyotype was interpreted as the result from an adjacent type 1 malsegregation of the meiotic paternal quadrivalent MI22,IV (5p 14;13q13). Her phenotype agrees with the preliminar map of Noël et al. (1976) but, in addition, she shows craniosynostosis and practically normal psychomotor maturation.