PMID- 30410579
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220408
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 11
DP  - 2018
TI  - Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 
      duplication and phenotype correlation.
PG  - 57
LID - 10.1186/s13039-018-0406-0 [doi]
LID - 57
AB  - BACKGROUND: Microdeletion of 1q43q44 causes a syndrome characterized by 
      intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus 
      callosum abnormalities (CCA) and characteristic facial features. Duplication of 
      4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to 
      verify the correlation between genotype/phenotype in a patient with 1q43q44 
      deletion associated with 4q32.1q35.2 duplication. CASE PRESENTATION: We report on 
      a 3 year-old female patient with delayed motor and mental milestones, MIC and 
      facial dysmorphism. She is a child of non-consanguineous parents and no similarly 
      affected family members. CT brain showed abnormal gyral patterns, hypogenesis of 
      corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed 
      frontotemporal epileptogenic focus. Her karyotype was revealed as 
      46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole 
      chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not 
      derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple 
      ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q 
      and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb 
      duplication of chromosome 4q. CONCLUSION: The phenotype of our patient mainly 
      reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes 
      associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with 
      ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 
      microdeletion and cytogenomic analysis.
FAU - Mohamed, A M
AU  - Mohamed AM
AD  - 1Division of Human Genetics and Genome Research, Department of Human 
      Cytogenetics, National Research Centre, 33-El-Bohooth St. Dokki, Cairo, 12311 
      Egypt. ISNI: 0000 0001 2151 8157. GRID: grid.419725.c
FAU - El-Bassyouni, H T
AU  - El-Bassyouni HT
AD  - 2Division of Human Genetics and Genome Research, Department of Clinical Genetics, 
      National Research Centre, Cairo, Egypt. ISNI: 0000 0001 2151 8157. GRID: 
      grid.419725.c
FAU - El-Gerzawy, A M
AU  - El-Gerzawy AM
AD  - 1Division of Human Genetics and Genome Research, Department of Human 
      Cytogenetics, National Research Centre, 33-El-Bohooth St. Dokki, Cairo, 12311 
      Egypt. ISNI: 0000 0001 2151 8157. GRID: grid.419725.c
FAU - Hammad, S A
AU  - Hammad SA
AD  - 1Division of Human Genetics and Genome Research, Department of Human 
      Cytogenetics, National Research Centre, 33-El-Bohooth St. Dokki, Cairo, 12311 
      Egypt. ISNI: 0000 0001 2151 8157. GRID: grid.419725.c
FAU - Helmy, N A
AU  - Helmy NA
AD  - 1Division of Human Genetics and Genome Research, Department of Human 
      Cytogenetics, National Research Centre, 33-El-Bohooth St. Dokki, Cairo, 12311 
      Egypt. ISNI: 0000 0001 2151 8157. GRID: grid.419725.c
FAU - Kamel, A K
AU  - Kamel AK
AD  - 1Division of Human Genetics and Genome Research, Department of Human 
      Cytogenetics, National Research Centre, 33-El-Bohooth St. Dokki, Cairo, 12311 
      Egypt. ISNI: 0000 0001 2151 8157. GRID: grid.419725.c
FAU - Ismail, S I
AU  - Ismail SI
AD  - 2Division of Human Genetics and Genome Research, Department of Clinical Genetics, 
      National Research Centre, Cairo, Egypt. ISNI: 0000 0001 2151 8157. GRID: 
      grid.419725.c
FAU - Issa, M Y
AU  - Issa MY
AD  - 2Division of Human Genetics and Genome Research, Department of Clinical Genetics, 
      National Research Centre, Cairo, Egypt. ISNI: 0000 0001 2151 8157. GRID: 
      grid.419725.c
FAU - Eid, O
AU  - Eid O
AD  - 1Division of Human Genetics and Genome Research, Department of Human 
      Cytogenetics, National Research Centre, 33-El-Bohooth St. Dokki, Cairo, 12311 
      Egypt. ISNI: 0000 0001 2151 8157. GRID: grid.419725.c
FAU - Zaki, M S
AU  - Zaki MS
AD  - 2Division of Human Genetics and Genome Research, Department of Clinical Genetics, 
      National Research Centre, Cairo, Egypt. ISNI: 0000 0001 2151 8157. GRID: 
      grid.419725.c
LA  - eng
PT  - Case Reports
DEP - 20181106
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC6219057
OTO - NOTNLM
OT  - Chromosome 1q43-q44 deletion syndrome
OT  - Chromosome 4 duplication syndrome
OT  - Hypogenesis of corpus callosum
OT  - Microcephaly
OT  - Multiple abnormalities
COIS- Department of Human Cytogenetics. Human Genetics and Genome Research Division. 
      Coordinator of the team of human cytogenetics in the Centre of Scientific 
      Excellence for Human Genetics. National Research Centre, Egypt.The father agreed 
      for the patient's data and photos to be published in the periodic scientific 
      journals. Parents had the explanation of the study and had been given the chance 
      to make inquiries. A copy of the written consent is available for review upon 
      request.The authors declared that they have no competing interest.Springer Nature 
      remains neutral with regard to jurisdictional claims in published maps and 
      institutional affiliations.
EDAT- 2018/11/10 06:00
MHDA- 2018/11/10 06:01
PMCR- 2018/11/06
CRDT- 2018/11/10 06:00
PHST- 2018/05/17 00:00 [received]
PHST- 2018/10/17 00:00 [accepted]
PHST- 2018/11/10 06:00 [entrez]
PHST- 2018/11/10 06:00 [pubmed]
PHST- 2018/11/10 06:01 [medline]
PHST- 2018/11/06 00:00 [pmc-release]
AID - 406 [pii]
AID - 10.1186/s13039-018-0406-0 [doi]
PST - epublish
SO  - Mol Cytogenet. 2018 Nov 6;11:57. doi: 10.1186/s13039-018-0406-0. eCollection 
      2018.