title: Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.
abstract: OBJECTIVE
  We present recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 in a family with phenotypic variability in developmental, speech, and motor delay.
  
  
  METHODS
  A 32-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result of Down syndrome risk of 1/226. Her husband was 31 years old. She and her husband were phenotypically normal, and there was no family history of mental disorders and congenital malformations. Amniocentesis revealed a karyotype of 46,XX. Prenatal ultrasound findings were unremarkable. A 2492-g female baby was delivered at 37 weeks of gestation uneventfully. During the subsequent pregnancy, the same woman at the age of 35 years underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 46,XY. Prenatal ultrasound findings were unremarkable. A 2780-g male baby was delivered at 37 weeks of gestation uneventfully. About 3 years after the birth of this boy, array comparative genomic hybridization of the family revealed 15q11.2 microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 in the two siblings, who displayed developmental, speech, and motor delay, and in their phenotypically normal father.
  
  
  CONCLUSIONS
  Recurrent phenotypic abnormality in the family with normal karyotype at amniocentesis should include a differential diagnosis of familial pathogenic copy-number variations.
authors.affiliation: 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.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; Department of Early Childhood Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chung-Lin
authors.initials: CL
authors.lastname: Lee
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.affiliation: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Shin-Wen
authors.initials: SW
authors.lastname: Chen
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D027682:Cation Transport Proteins; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008869:Microtubule-Associated Proteins / Q000235:genetics; D010641:Phenotype; D016216:Ultrasonography, Prenatal
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C109916:CYFIP1 protein, human; D027682:Cation Transport Proteins; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; C478824:NIPA1 protein, human; C478825:NIPA2 protein, human; C444455:TUBGCP5 protein, human
keywords: 15q11.2 (BP1-BP2) deletion; CYFIP1; NIPA1; NIPA2; TUBGCP5