Small terminal deletion of 1p and duplication of 1q: Cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years

Yao Shan Fan, Jack Jung, Brenda Hamilton

Research output: Contribution to journalArticle

16 Scopus citations


A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G- banding and fluorescence in situ hybridization using multiple DNA probes. The karyotype is now described as 46,XY, der(1) (qter→p36.13::q42.3→qter), representing a small deletion of 1p36.13-pter and a small duplication of 1q42.3-qter. Reexamination of this patient at age 16 years showed marked psychomotor delay, severely accentuated dorsal kyphosis and scoliosis, pectus excavatum, and other anomalies but no clinical signs of neuroblastoma. Comparison of the clinical findings in this case with those described in the patients having either a deletion of 1p36-pter or a duplication of 1q42-qter further illustrated the complexity of the genotype-phenotype relationship.

Original languageEnglish (US)
Pages (from-to)118-123
Number of pages6
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Sep 10 1999
Externally publishedYes



  • Chromosome 1
  • Deletion of 1p36
  • Duplication of 1q42-qter
  • FISH
  • Monosomy 1p
  • Trisomy 1q

ASJC Scopus subject areas

  • Genetics(clinical)

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