PMID- 32293439
OWN - NLM
STAT- MEDLINE
DCOM- 20200817
LR  - 20200817
IS  - 1755-8794 (Electronic)
IS  - 1755-8794 (Linking)
VI  - 12
IP  - 1
DP  - 2019 Nov 21
TI  - Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 
      4: case report and literature review.
PG  - 167
LID - 10.1186/s12920-019-0614-4 [doi]
LID - 167
AB  - BACKGROUND: Since 1969, 49 cases have been presented on ring chromosome 4. All of 
      these cases have been characterized for the loss of genetic material. The genes 
      located in these chromosomal regions are related to the phenotype. CASE 
      PRESENTATION: A 10-year-old Ecuadorian Mestizo girl with ring chromosome 4 was 
      clinically, cytogenetically and molecularly analysed. Clinical examination 
      revealed congenital anomalies, including microcephaly, prominent nose, 
      micrognathia, low set ears, bilateral clinodactyly of the fifth finger, small 
      sacrococcygeal dimple, short stature and mental retardation. Cytogenetic studies 
      showed a mosaic karyotype, mos 46,XX,r(4)(p16.3q35.2)/46,XX, with a ring 
      chromosome 4 from 75 to 79% in three studies conducted over ten years. These 
      results were confirmed by fluorescence in situ hybridization (FISH). Loss of 
      1.7 Mb and gain of 342 kb in 4p16.3 and loss of 3 Mb in 4q35.2 were identified by 
      high-resolution mapping array. CONCLUSION: Most cases with ring chromosome 4 have 
      deletion of genetic material in terminal regions; however, our case has inv dup 
      del rearrangement in the ring chromosome formation. Heterogeneous clinical 
      features in all cases reviewed are related to the amount of genetic material lost 
      or gained. The application of several techniques can increase our knowledge of 
      ring chromosome 4 and its deviations from typical "ring syndrome."
FAU - Paz-Y-Mino, Cesar
AU  - Paz-Y-Mino C
AUID- ORCID: 0000-0002-6693-7344
AD  - Centro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud 
      Eugenio Espejo, Universidad UTE. Av. Mariscal Sucre y Av. Mariana de Jesus, Sede 
      Occidental, Bloque I, 2 floor, 170129, Quito, Ecuador. cesar.pazymino@ute.edu.ec.
FAU - Proano, Ana
AU  - Proano A
AD  - Centro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud 
      Eugenio Espejo, Universidad UTE. Av. Mariscal Sucre y Av. Mariana de Jesus, Sede 
      Occidental, Bloque I, 2 floor, 170129, Quito, Ecuador.
FAU - Verdezoto, Stella D
AU  - Verdezoto SD
AD  - Centro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud 
      Eugenio Espejo, Universidad UTE. Av. Mariscal Sucre y Av. Mariana de Jesus, Sede 
      Occidental, Bloque I, 2 floor, 170129, Quito, Ecuador.
FAU - Garcia, Juan Luis
AU  - Garcia JL
AD  - Institute of Molecular and Cellular Biology of Cancer (IBMCC), University of 
      Salamanca-SACYL-CSIC, Salamanca, Spain.
AD  - Molecular Medicine Unit, Department of Medicine, Biomedical Research Institute of 
      Salamanca (IBSAL), Salamanca, Spain.
FAU - Hernandez-Rivas, Jesus Maria
AU  - Hernandez-Rivas JM
AD  - Molecular Medicine Unit, Department of Medicine, Biomedical Research Institute of 
      Salamanca (IBSAL), Salamanca, Spain.
AD  - Servicio de Hematologia, Hospital Universitario de Salamanca, Universidad de 
      Salamanca, Salamanca, Spain.
FAU - Leone, Paola E
AU  - Leone PE
AD  - Centro de Investigacion Genetica y Genomica, Facultad de Ciencias de la Salud 
      Eugenio Espejo, Universidad UTE. Av. Mariscal Sucre y Av. Mariana de Jesus, Sede 
      Occidental, Bloque I, 2 floor, 170129, Quito, Ecuador. paola.leone@ute.edu.ec.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20191121
PL  - England
TA  - BMC Med Genomics
JT  - BMC medical genomics
JID - 101319628
RN  - Ring chromosome 4 syndrome
SB  - IM
MH  - Child
MH  - Chromosome Disorders/*genetics/*pathology
MH  - Chromosomes, Human, Pair 4/genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Ring Chromosomes
PMC - PMC7087353
OTO - NOTNLM
OT  - 46,XX,r(4)(p16.3q35.2)
OT  - FISH
OT  - Mapping array
OT  - Mosaic
OT  - Ring chromosome 4
OT  - inv dup del rearrangement
COIS- The authors declare that they have no competing interests.
EDAT- 2020/04/16 06:00
MHDA- 2020/08/18 06:00
PMCR- 2019/11/21
CRDT- 2020/04/16 06:00
PHST- 2019/02/08 00:00 [received]
PHST- 2019/11/06 00:00 [accepted]
PHST- 2020/04/16 06:00 [entrez]
PHST- 2020/04/16 06:00 [pubmed]
PHST- 2020/08/18 06:00 [medline]
PHST- 2019/11/21 00:00 [pmc-release]
AID - 10.1186/s12920-019-0614-4 [pii]
AID - 614 [pii]
AID - 10.1186/s12920-019-0614-4 [doi]
PST - epublish
SO  - BMC Med Genomics. 2019 Nov 21;12(1):167. doi: 10.1186/s12920-019-0614-4.