[The paternal origin of an extra chromosome 13 from the patient with patau syndrome.].
A boy was born at 38 week's gestation by Cesarean delivery . Affected newborn was characteristically bilateral cleft lip and severe cleft palate. The sternum was malformation. The sacrospinal bifida and the talipes varus were found and the testes were not descended. The boy died after delivery within 10 minutes owing to respiratory failure. Cytogenetic analysis of his peripheral lymphocyte by G banding showed a karyotype 47,XY,+13 , which was also confirmed by fluorescence in situ hybridization (FISH). The locus D13S317 was detected by the peripheral blood from the boy and the parents. Three alleles were found from the boy in locus D13S317 and two from the father. The extra chromosome 13 was from the nondisjunction during the first meiotic division of the father.
Laboratory of Reproduction and Genetics, Nanjing Genenral Hospital, Nanjing command PLA,Nanjing 210002, China, Email: cuiys55@yahoo.com.
Qin
Q
Zhou
Ying-Xia
YX
Cui
Yong-Mei
YM
Wang
Yu-Feng
YF
Huang
D002871:Chromosome Banding; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D014314:Trisomy