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18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype

V B Rao1, L Kerketta, S Korgaonkar

  • 1Institute of Immunohaematology (ICMR), MRCP (UK), MRCP (Ire), FRC Path (London), Deputy Director, 13th Floor, New Multistoreyed Bldg, KEM Hospital Campus, Parel, Mumbai-400 012, Mumbai, India.

Annales De Genetique
|January 5, 2002
PubMed

Insights

A rare genetic disorder, 18p deletion syndrome, was identified in an infant with multiple congenital anomalies. The study suggests a potential role for chromosome 18 regions beyond 18p in this condition.

Area of Science:

  • Clinical Genetics
  • Pediatric Dysmorphology
  • Cytogenetics

Background:

  • 18p deletion syndrome is a chromosomal disorder associated with a range of developmental and physical abnormalities.
  • Understanding the precise chromosomal regions involved is crucial for accurate diagnosis and genetic counseling.

Observation:

  • An 8-month-old male presented with a constellation of dysmorphic features including microphthalmia, micrognathia, hypertelorism, macrotestis, and developmental delay.
  • The patient exhibited generalized seizures, hydrocephalus, coarctation of the aorta, and mild hypocalcemia with normal renal function.
  • Cytogenetic analysis revealed an 18p(-) karyotype resulting from a translocation between chromosomes 14p and 18q.

Findings:

  • The observed phenotype closely resembles that of classic 18p deletion syndrome.
  • The cytogenetic finding of a translocation involving 18p supports a diagnosis related to 18p abnormalities.

Implications:

  • The study suggests that genetic alterations in chromosome 18, specifically regions proximal to 18q11.2, may contribute to the observed phenotype.
  • This finding expands the understanding of the genetic basis of 18p deletion syndrome and related disorders.
  • Further research into the specific genes within this chromosomal region could elucidate novel genotype-phenotype correlations.

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