Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).

@article{Gibbons1999InterstitialDO,
  title={Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).},
  author={Billy Gibbons and Soo Yong Tan and Su Keyau Kee and Robert Quaife and Soo Teik Lim},
  journal={American journal of medical genetics},
  year={1999},
  volume={86 3},
  pages={289-93}
}
We describe an infant girl with an interstitial deletion of chromosome bands 5q33 to 5q35 inherited from a maternal interchromosomal insertion ins(8;5)(p23;q33q35) which was demonstrated by fluorescent in situ hybridization with whole chromosome paints. Physical anomalies included hypertonicity, microcephaly, short neck, apparently low-set ears… CONTINUE READING