PMID- 37876589
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231026
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Electronic)
IS  - 2090-6552 (Linking)
VI  - 2023
DP  - 2023
TI  - A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum 
      Disorder and Dyskinesia.
PG  - 7974886
LID - 10.1155/2023/7974886 [doi]
LID - 7974886
AB  - INTRODUCTION: There is evidence that neurodevelopmental disorders are associated 
      with chromosomal abnormalities. Current genetic testing can clinch an exact 
      diagnosis in 20-25% of such cases. Case Description. A 3 years and 11 months old 
      boy with global developmental delay had repetitive behaviors and hyperkinetic 
      movements. He was stunted and underweight. He had ataxia, limb dyskinesia, 
      triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, 
      retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal 
      tip, polydactyly, tappering fingers, and decreased tone in the upper and lower 
      limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, 
      ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain 
      evoked response auditory revealed bilateral moderate hearing loss. He fulfilled 
      the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social 
      Maturity Scale, his score indicated a severe delay in social functioning. His 
      genetic evaluation included karyotyping, fluorescence in situ hybridization 
      (FISH), and chromosomal microarray analysis (CMA). The karyotype report from 
      high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; 
      p15.3)[50]/46, XY,der(5) t(3;5) (p26;p15.3)[50].ish. His karyotype report showed 
      a very rare and abnormal mosaic pattern with two cell lines (50% each). 
      Cell-line#1: 3pter deletion with 5pter duplication (3pter-/5pter+) and 
      cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter-) derived from a 
      de novo reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. 
      The chromosomal microarray analysis report was normal. The two cell lines (50% 
      each) seem to have balanced out at the whole genome level. Occupational, sensory 
      integration, and behavior modification therapy were initiated for his autistic 
      features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic 
      movements. CONCLUSION: This case highlights a rare genetic finding and the need 
      for timely genetic testing in a child with dysmorphism and autism with movement 
      disorder to enable appropriate management and genetic counselling.
CI  - Copyright (c) 2023 Luna Bajracharya et al.
FAU - Bajracharya, Luna
AU  - Bajracharya L
AUID- ORCID: 0000-0001-9601-6944
AD  - Department of Pediatrics, Maharajgunj Medical Campus, Institute of Medicine, 
      Tribhuvan University Teaching Hospital, Kathmandu, Nepal.
FAU - Lall, Meena
AU  - Lall M
AUID- ORCID: 0000-0003-1333-2752
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Bijarnia-Mahay, Sunita
AU  - Bijarnia-Mahay S
AUID- ORCID: 0000-0002-5255-8212
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Kumar, Praveen
AU  - Kumar P
AD  - Department of Pediatric Neurology, Institute of Child Health, Sir Ganga Ram 
      Hospital, New Delhi, India.
FAU - Mushtaq, Imran
AU  - Mushtaq I
AD  - Child Developmental Clinic, Institute of Child Health, Sir Ganga Ram Hospital, 
      New Delhi, India.
FAU - Saviour, Pushpa
AU  - Saviour P
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Paliwal, Preeti
AU  - Paliwal P
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Joshi, Anju
AU  - Joshi A
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Agarwal, Shruti
AU  - Agarwal S
AD  - Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 
      India.
FAU - Suman, Praveen
AU  - Suman P
AD  - Child Developmental Clinic, Institute of Child Health, Sir Ganga Ram Hospital, 
      New Delhi, India.
LA  - eng
PT  - Case Reports
DEP - 20231016
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC10593553
COIS- The authors declare that there are no conflicts of interest.
EDAT- 2023/10/25 06:42
MHDA- 2023/10/25 06:43
PMCR- 2023/10/16
CRDT- 2023/10/25 03:52
PHST- 2023/05/04 00:00 [received]
PHST- 2023/09/30 00:00 [revised]
PHST- 2023/10/05 00:00 [accepted]
PHST- 2023/10/25 06:43 [medline]
PHST- 2023/10/25 06:42 [pubmed]
PHST- 2023/10/25 03:52 [entrez]
PHST- 2023/10/16 00:00 [pmc-release]
AID - 10.1155/2023/7974886 [doi]
PST - epublish
SO  - Case Rep Genet. 2023 Oct 16;2023:7974886. doi: 10.1155/2023/7974886. eCollection 
      2023.