Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14).
We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2→p14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Chih-Ping
CP
Chen
Meng-Ju
MJ
Lee
Schu-Rern
SR
Chern
Peih-Shan
PS
Wu
Jun-Wei
JW
Su
Yu-Ting
YT
Chen
Meng-Shan
MS
Lee
Wayseen
W
Wang
D000328:Adult; D000649:Amniocentesis; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy
4p14-p15.2; BAC; FISH; Interstitial 4p deletion; OMIM; Online Mendelian Inheritance in Man; Prenatal diagnosis; QF-PCR; WHS; Wolf-Hirschhorn syndrome; aCGH; array comparative genomic hybridization; bacterial artificial chromosome; del; deletion; fluorescence in situ hybridization; quantitative fluorescent polymerase chain reaction