4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate

J Craniomaxillofac Surg. 2000 Jun;28(3):165-70. doi: 10.1054/jcms.2000.0126.


Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 9*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Isochromosomes
  • Karyotyping
  • Polyploidy
  • Syndrome
  • Translocation, Genetic