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Partial DiGeorge anomaly associated with 10p deletion

H L Hsu1, P H Hsiao, J W Hou

  • 1Department of Pediatrics, National Taiwan University Hospital, Taipei.

Journal of the Formosan Medical Association = Taiwan Yi Zhi
|January 28, 1998
PubMed
Summary

This study details a rare case of partial DiGeorge anomaly linked to a 10p deletion in a Taiwanese infant. Early intervention with calcium and vitamin D managed hypocalcemia, highlighting the importance of genetic testing for developmental disorders.

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Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • DiGeorge anomaly is a complex genetic disorder often associated with chromosome 22q11.2 deletions.
  • Partial deletions of other chromosomes can also lead to DiGeorge-like phenotypes, necessitating broad genetic evaluation.
  • Chromosome 10p deletions are rare and their association with DiGeorge anomaly requires further investigation.

Observation:

  • A Taiwanese infant presented with hypocalcemic seizures, intrauterine growth restriction, feeding difficulties, and inspiratory stridor.
  • Facial dysmorphisms included cupped ears, hypertelorism, downslanted palpebral fissures, frontal bossing, anteverted nostrils, a flat nasal bridge, and micrognathia.
  • The infant exhibited developmental delay and bilateral sensorineural hearing loss, despite normal immunological studies and brain imaging.

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Findings:

  • Karyotyping revealed a partial deletion on chromosome 10p (10p12.3) in the affected infant, with normal parental karyotypes.
  • Ultrasound showed thymic hypoplasia, a common feature in DiGeorge anomaly.
  • The patient experienced complex partial seizures, managed with carbamazepine, and required ongoing supplementation for divalent cations.

Implications:

  • This case represents the first reported instance of partial DiGeorge anomaly associated with a 10p deletion in Taiwan.
  • Standard karyotyping is recommended for children presenting with clinical suspicion of DiGeorge anomaly, even with atypical chromosomal findings.
  • Early diagnosis and management of hypocalcemia and developmental issues are crucial for improving outcomes in patients with 10p deletion syndrome.