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A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.

Abstract
Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.
AuthorsF Halal, M Vekemans, V M Der Kaloustian
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 32 Issue 3 Pg. 376-9 (Mar 1989) ISSN: 0148-7299 [Print] United States
PMID2658588 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Abnormalities, Multiple (diagnostic imaging, genetics)
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 2
  • Female
  • Humans
  • Infant, Newborn
  • Multigene Family
  • Radiography
  • Translocation, Genetic

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