PMID- 27343325
OWN - NLM
STAT- MEDLINE
DCOM- 20170418
LR  - 20220409
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 3
DP  - 2016 Jun
TI  - Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication 
      and 5p13.33-pter deletion due to familial balanced rearrangement.
PG  - 410-4
LID - S1028-4559(16)30040-7 [pii]
LID - 10.1016/j.tjog.2016.04.018 [doi]
AB  - OBJECTIVE: Neural tube defects belong to the second most common group of 
      congenital anomalies, after heart defects, which can be diagnosed by prenatal 
      ultrasonography. Rarely, neural tube defects can be associated with chromosomal 
      abnormalities, including full and partial aneuploidies. We report a familial 
      fetal case with syndromic spina bifida and discuss its association with partial 
      3q duplication and partial 5p deletion. MATERIALS AND METHODS: Clinical findings 
      of three affected family members in two generations and two carriers of the 
      balanced translocation are described. Conventional cytogenetic and fluorescence 
      in situ hybridization (FISH) analysis of the carrier, as well as subtelomeric 
      multiplex ligation-dependent probe amplification (MLPA) and array comparative 
      genomic hybridization (CGH) analysis on the DNA extracted from affected family 
      members was performed. RESULTS: Subtelomeric FISH analysis of the proposita 
      revealed balanced reciprocal translocation between the long arm of chromosome 3 
      and short arm of chromosome 5. Subtelomeric MLPA screening of the first child 
      revealed the deletion in 5p15.33 and duplication in 3q29 chromosomal loci, the 
      finding consisting of the unbalanced rearrangement involving the short arm of 
      chromosome 5 and long arm of chromosome 3. Array CGH analysis of the DNA of the 
      second affected child revealed a 31.1Mb duplication of 3q26.1-qter and a 33.6Mb 
      deletion of 5p13.33-pter. CONCLUSION: Our report serves to emphasize the 
      consistency in the prenatal sonographic feature of spina bifida in consecutive 
      pregnancies with fetuses associated with partial trisomy 3q (3q26.1-qter) and 
      partial monosomy 5p (5p13.33-pter). The use of molecular cytogenetic technologies 
      such as array CGH and FISH is important for clarifying any type of unbalanced 
      chromosome rearrangement.
CI  - Copyright (c) 2016. Published by Elsevier B.V.
FAU - Preiksaitiene, Egle
AU  - Preiksaitiene E
AD  - Department of Human and Medical Genetics, Faculty of Medicine, Vilnius 
      University, Vilnius, Lithuania. Electronic address: egle.preiksaitiene@mf.vu.lt.
FAU - Benusiene, Egle
AU  - Benusiene E
AD  - Department of Human and Medical Genetics, Faculty of Medicine, Vilnius 
      University, Vilnius, Lithuania.
FAU - Ciuladaite, Zivile
AU  - Ciuladaite Z
AD  - Department of Human and Medical Genetics, Faculty of Medicine, Vilnius 
      University, Vilnius, Lithuania.
FAU - Sliuzas, Vytautas
AU  - Sliuzas V
AD  - Department of Human and Medical Genetics, Faculty of Medicine, Vilnius 
      University, Vilnius, Lithuania.
FAU - Mikstiene, Violeta
AU  - Mikstiene V
AD  - Department of Human and Medical Genetics, Faculty of Medicine, Vilnius 
      University, Vilnius, Lithuania.
FAU - Kucinskas, Vaidutis
AU  - Kucinskas V
AD  - Department of Human and Medical Genetics, Faculty of Medicine, Vilnius 
      University, Vilnius, Lithuania.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Abnormalities, Multiple/diagnostic imaging/*genetics
MH  - Adult
MH  - *Chromosome Deletion
MH  - *Chromosome Duplication
MH  - *Chromosomes, Human, Pair 3
MH  - *Chromosomes, Human, Pair 5
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Multiplex Polymerase Chain Reaction
MH  - Pedigree
MH  - Pregnancy
MH  - Recurrence
MH  - Spinal Dysraphism/diagnostic imaging/*genetics
MH  - Syndrome
MH  - Ultrasonography, Prenatal
OTO - NOTNLM
OT  - 3q26.1-qter duplication
OT  - 5p13.33-pter deletion
OT  - neural tube defects
EDAT- 2016/06/28 06:00
MHDA- 2017/04/19 06:00
CRDT- 2016/06/26 06:00
PHST- 2014/10/14 00:00 [accepted]
PHST- 2016/06/26 06:00 [entrez]
PHST- 2016/06/28 06:00 [pubmed]
PHST- 2017/04/19 06:00 [medline]
AID - S1028-4559(16)30040-7 [pii]
AID - 10.1016/j.tjog.2016.04.018 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Jun;55(3):410-4. doi: 10.1016/j.tjog.2016.04.018.