Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies

Am J Med Genet. 1989 Mar;32(3):353-5. doi: 10.1002/ajmg.1320320316.


Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Chromosome Aberrations / pathology*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 1*
  • Consanguinity
  • Humans
  • Infant
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Male