These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35).
    Author: Gibbons B, Tan SY, Kee SK, Quaife R, Lim ST.
    Journal: Am J Med Genet; 1999 Sep 17; 86(3):289-93. PubMed ID: 10482883.
    Abstract:
    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, micrognathia, camptodactyly, mild rocker bottom feet, and hammer toe. Cardiac anomalies included a large ventricular septal defect, patent ductus arteriosus, pulmonary hypertension and hypoplastic right ventricle. She died at age 3 months.
    [Abstract] [Full Text] [Related] [New Search]