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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy