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<p>Contiguous (linked) gene syndromes (CGS) arise as a result microdeletions and other aberrations of a chromosomal region containing multiple gene loci. One CGS variant is Xp21 (Xp21.3-p21.2) deletion syndrome. The world literature describes slightly more than 100 male patients suffering from Xp21 deletion syndrome. The present article presents a description of clinical observations of a boy with Xp21 deletion syndrome. Chromosomal microarray analysis revealed a microdeletion of the X chromosome region from position 28,085,320 to position 33,391,678, measuring 5,306,358 bp, including 11 genes in the imbalance region. Clinical manifestations occurred in the neonatal period and consisted of primary adrenal insufficiency (PAI). Early and abrupt-onset signs of PAI within 1–2 days after birth with severe metabolic disorders was a feature of this patient. An increase in transaminases was first detected at age 2 years 7 months on the background of metabolic disorders due to PAI, which led to an erroneous diagnosis of autoimmune hepatitis. Formation of myopathic syndrome was noted at age 2 years 10 months and a diagnosis of primary muscular dystrophy was made. The patient displayed pronounced delay in psychomotor development from an early age. The child’s mother was found to have an identical mutation, including 11 genes in the imbalance region. The family history indicated death of the first boy in the family due to PAI at age 6 weeks, which should have been a reason for systematic assessment of the clinical situation and prompt medical and genetic counseling to prevent the birth of a sick child in subsequent pregnancies.</p>

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Xp21 Contiguous Gene Deletion Syndrome

  • 期刊论文

  • 发表日期：

    2025年9月11日

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  • T. P. Kalashnikova,
  • A. G. Malov,
  • A. V. Veselkova,
  • A. A. Silaev

摘要

Contiguous (linked) gene syndromes (CGS) arise as a result microdeletions and other aberrations of a chromosomal region containing multiple gene loci. One CGS variant is Xp21 (Xp21.3-p21.2) deletion syndrome. The world literature describes slightly more than 100 male patients suffering from Xp21 deletion syndrome. The present article presents a description of clinical observations of a boy with Xp21 deletion syndrome. Chromosomal microarray analysis revealed a microdeletion of the X chromosome region from position 28,085,320 to position 33,391,678, measuring 5,306,358 bp, including 11 genes in the imbalance region. Clinical manifestations occurred in the neonatal period and consisted of primary adrenal insufficiency (PAI). Early and abrupt-onset signs of PAI within 1–2 days after birth with severe metabolic disorders was a feature of this patient. An increase in transaminases was first detected at age 2 years 7 months on the background of metabolic disorders due to PAI, which led to an erroneous diagnosis of autoimmune hepatitis. Formation of myopathic syndrome was noted at age 2 years 10 months and a diagnosis of primary muscular dystrophy was made. The patient displayed pronounced delay in psychomotor development from an early age. The child’s mother was found to have an identical mutation, including 11 genes in the imbalance region. The family history indicated death of the first boy in the family due to PAI at age 6 weeks, which should have been a reason for systematic assessment of the clinical situation and prompt medical and genetic counseling to prevent the birth of a sick child in subsequent pregnancies.