PMID- 37482055
OWN - NLM
STAT- MEDLINE
DCOM- 20231127
LR  - 20231127
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 163
IP  - 1-2
DP  - 2023
TI  - Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome 
      Derived from an Inherited Intrachromosomal Insertion.
PG  - 24-31
LID - 10.1159/000532051 [doi]
AB  - Intrachromosomal insertions are complex structural rearrangements that are 
      challenging to interpret using classical cytogenetic methods. We report a male 
      patient carrying a recombinant X chromosome derived from a maternally inherited 
      intrachromosomal insertion. The patient exhibited developmental delay, 
      intellectual disability, behavioral disorder, and dysmorphic facial features. To 
      accurately identify the rearrangements in the abnormal X chromosome, additional 
      cytogenetic studies were conducted, including fluorescence in situ hybridization 
      (FISH), multicolor-banding FISH, and array comparative genomic hybridization. The 
      results showed a recombinant X chromosome, resulting in a 13.05 Mb interstitial 
      duplication of segment Xp22.33-Xp22.13, which was inserted at cytoband Xq26.1. 
      The duplicated region encompasses 99 genes, some of which are associated with the 
      patient's clinical manifestations. We propose that the combined effects of the 
      Xp-duplicated genes may contribute to the patient's phenotype.
CI  - (c) 2023 S. Karger AG, Basel.
FAU - Joaquim, Tatiana Mozer
AU  - Joaquim TM
AD  - Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, 
      Ribeirao Preto, Brazil.
AD  - Department of General Biology, State University of Londrina, Londrina, Brazil.
FAU - Roy, Scott David
AU  - Roy SD
AD  - Cytogenetics Laboratory North Sector, Genetics & Genomics, Alberta Precision 
      Laboratories, University of Alberta Hospital, Edmonton, Alberta, Canada.
FAU - de Albuquerque, Clarissa Gondim Picanco
AU  - de Albuquerque CGP
AD  - Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, 
      Ribeirao Preto, Brazil.
AD  - Medical Genetics Section, Clinical Hospital of Ribeirao Preto, Ribeirao Preto 
      Medical School, University of Sao Paulo, Ribeirao Preto, Brazil.
FAU - Grangeiro, Carlos Henrique Paiva
AU  - Grangeiro CHP
AD  - Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, 
      Ribeirao Preto, Brazil.
AD  - Medical Genetics Section, Clinical Hospital of Ribeirao Preto, Ribeirao Preto 
      Medical School, University of Sao Paulo, Ribeirao Preto, Brazil.
FAU - Squire, Jeremy A
AU  - Squire JA
AD  - Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, 
      Ribeirao Preto, Brazil.
FAU - Yoshimoto, Maisa
AU  - Yoshimoto M
AD  - Cytogenetics Laboratory North Sector, Genetics & Genomics, Alberta Precision 
      Laboratories, University of Alberta Hospital, Edmonton, Alberta, Canada.
AD  - Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
FAU - Martelli, Lucia
AU  - Martelli L
AD  - Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, 
      Ribeirao Preto, Brazil.
AD  - Medical Genetics Section, Clinical Hospital of Ribeirao Preto, Ribeirao Preto 
      Medical School, University of Sao Paulo, Ribeirao Preto, Brazil.
LA  - eng
PT  - Case Reports
DEP - 20230721
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Humans
MH  - Male
MH  - In Situ Hybridization, Fluorescence
MH  - Comparative Genomic Hybridization
MH  - *Chromosome Aberrations
MH  - Cytogenetic Analysis
MH  - *Intellectual Disability/genetics
MH  - Chromosomes, Human, X/genetics
MH  - Chromosome Duplication
OTO - NOTNLM
OT  - Array comparative genomic hybridization
OT  - Fluorescence in situ hybridization
OT  - Genotype-phenotype correlation
OT  - Intrachromosomal insertion
OT  - Multicolor-banding FISH
OT  - X chromosome
OT  - Xp duplication
EDAT- 2023/07/24 00:41
MHDA- 2023/11/27 12:44
CRDT- 2023/07/23 18:22
PHST- 2023/05/25 00:00 [received]
PHST- 2023/07/14 00:00 [accepted]
PHST- 2023/11/27 12:44 [medline]
PHST- 2023/07/24 00:41 [pubmed]
PHST- 2023/07/23 18:22 [entrez]
AID - 000532051 [pii]
AID - 10.1159/000532051 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2023;163(1-2):24-31. doi: 10.1159/000532051. Epub 2023 Jul 
      21.