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[Xp21 contiguous gene deletion syndrome].

T P Kalashnikova1, A G Malov1, A V Veselkova2

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|May 12, 2025
PubMed
Summary

Xp21 deletion syndrome, a rare contiguous gene syndrome, presents early with primary adrenal insufficiency and metabolic disorders. This case highlights a significant microdeletion impacting 11 genes, emphasizing the need for genetic counseling.

Keywords:
Xp21 contiguous gene deletion syndromedevelopmental delay in childrenmicrodeletion syndromesmyopathyprimary adrenal insufficiency

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Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Contiguous gene syndromes (CGS) result from chromosomal aberrations affecting multiple genes.
  • Xp21 contiguous gene deletion syndrome (Xp21.3-p21.2) is a rare CGS with limited reported cases, primarily in males.
  • Early and rapid onset of symptoms is characteristic, often presenting in the neonatal period.

Purpose of the Study:

  • To present a clinical case of a boy diagnosed with Xp21 deletion syndrome.
  • To detail the genetic findings, clinical manifestations, and diagnostic challenges associated with this syndrome.
  • To underscore the importance of timely genetic counseling in hereditary conditions.

Main Methods:

  • Chromosomal microarray analysis (CMA) was employed to identify the specific microdeletion on the X chromosome.
  • Clinical data including neonatal presentation, metabolic disorders, liver enzyme elevation, myopathic signs, and psychomotor development were systematically recorded.
  • Family history, including a previous infant death and maternal diagnosis, was investigated.

Main Results:

  • A de novo microdeletion of 5,306,358 bp in the Xp21.3-p21.2 region was identified, encompassing 11 genes.
  • The patient exhibited early-onset primary adrenal insufficiency (PAI) with severe metabolic derangements from birth.
  • Delayed diagnoses of autoimmune hepatitis and muscular dystrophy occurred due to complex metabolic and myopathic presentations, alongside significant psychomotor delay.

Conclusions:

  • Xp21 deletion syndrome can present with a complex phenotype including PAI, metabolic disorders, and neurological deficits.
  • Misdiagnosis is a risk due to overlapping symptoms with other conditions, necessitating comprehensive genetic evaluation.
  • Early identification and genetic counseling are crucial for affected families to prevent recurrence and manage the condition effectively.