PMID- 32844071
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 2186-3644 (Print)
IS  - 2186-361X (Electronic)
IS  - 2186-3644 (Linking)
VI  - 9
IP  - 3
DP  - 2020 Aug
TI  - array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY 
      karyotypes of two rare klinefelter variants.
PG  - 145-150
LID - 10.5582/irdr.2020.01026 [doi]
AB  - Klinefelter syndrome (KS) variants often share common features with classical 
      syndrome but some of these variants present with a distinct phenotype. The 
      incidence of sex chromosome tetrasomy and pentasomy are very less and generally 
      diagnosed after prepubertal age. The early diagnosis of complex and unclassified 
      syndromes and it's correlation with genotype is necessary for personalized 
      treatment as well as genetic counselling of the affected families. We describe 
      clinical presentation, and genetic diagnosis of two cases of variant KS. Our 
      first case, a 4 year old male child presented with generalized tonic-clonic 
      seizures (GTCSs), delayed milestones and dysmorphic features while case 2, a-21 
      years old male who had history of seizures and delayed puberty came to our lab 
      for genetic diagnosis. The chromosomal analysis of case 1 and 2 showed 49,XXXXY 
      and 48,XXYY karyotype respectively. The karyotype results were confirmed with 
      fluorescence in situ hybridization (FISH) and array-CGH analysis. The FISH 
      results were found to be consistent with karyotype but the array-CGH results 
      showed the extra gain of region Yp11.2 in case 1 while the extra gain of region 
      Xp22.33 in case 2. The cases were confirmed as variant KS on the basis of 
      additional sex chromosomes and clinical presentation of deteriorated brain 
      development. The present study suggests that the high doses of sex chromosome 
      linked genes including pseudoautosomal region (PAR) caused the abnormal brain 
      development. The combination of molecular techniques should be utilized for the 
      diagnosis of such complex cases to understand the genotype-phenotype correlation 
      and appropriate genetic counseling.
CI  - 2020, International Research and Cooperation Association for Bio & Socio - 
      Sciences Advancement.
FAU - Dhangar, Somprakash
AU  - Dhangar S
AD  - Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K.E.M 
      Hospital campus, Parel, Mumbai, India.
FAU - Ghatanatti, Jagdeeshwar
AU  - Ghatanatti J
AD  - Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K.E.M 
      Hospital campus, Parel, Mumbai, India.
FAU - Vundinti, Babu Rao
AU  - Vundinti BR
AD  - Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K.E.M 
      Hospital campus, Parel, Mumbai, India.
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Intractable Rare Dis Res
JT  - Intractable & rare diseases research
JID - 101586847
PMC - PMC7441031
OTO - NOTNLM
OT  - Klinefelter variants
OT  - complex psychological behavior
OT  - deteriorated brain development
OT  - pseudoautosomal region
OT  - sex chromosome polysomy
EDAT- 2020/08/28 06:00
MHDA- 2020/08/28 06:01
PMCR- 2020/08/01
CRDT- 2020/08/27 06:00
PHST- 2020/08/27 06:00 [entrez]
PHST- 2020/08/28 06:00 [pubmed]
PHST- 2020/08/28 06:01 [medline]
PHST- 2020/08/01 00:00 [pmc-release]
AID - 10.5582/irdr.2020.01026 [doi]
PST - ppublish
SO  - Intractable Rare Dis Res. 2020 Aug;9(3):145-150. doi: 10.5582/irdr.2020.01026.