Archives of Pediatrics and Adolescent Medicine · 1968 · 47 citations · 4 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AberrationsChromosomal AbnormalitiesChromosomal DisordersChromosome AberrationsNumerical Chromosome AbnormalitiesStructural Chromosome AbnormalitiesChromosomal DeletionsChromosome DeletionsConstitutional Chromosome AbnormalitiesCri-du-chat SyndromeMicrodeletion SyndromesStructural Chromosomal Rearrangements
CHROMOSOMAL delections are now well documented in man. The first example was the deletion of the short arm of chromosome 18 described by De Grouchy et al.<sup>1,2</sup>According to the newly proposed nomenclature of the Chicago Conference<sup>3</sup>this chromosome anomaly is refered to as "18p—". Subsequently the cri du chat or 5p— syndrome was reported by Lejeune et al<sup>4</sup>and the 18q— syndrome by De Grouchy et al<sup>5</sup>and Lejeune et al.<sup>6</sup>Recently, Laurent et al<sup>7</sup>described one case of Dq— anomaly. The present report describes a new instance of a partial deletion, namely that of the short arm of a C chromosome, probably a 6 (?6p— aberration). <h3>Report of a Case</h3> The patient, a boy, born Nov 21, 1966, was the product of the first pregnancy of a 19-year-old mother. His father was 24 years old. The child was born prematurely after 7½
4
[PARTIAL DELETION OF THE LONG ARMS OF THE CHROMOSOME 18].
J. de Grouchy, P Royer, C Salmon et al. · PubMed · 1964 · 121 citations
S. Smith-White, W. James Peacock, Gesina M. Dulk · Nature · 1963 · 32 citations
Two cases with a C‐group ring autosome
L. Atkins, Shyam S. Pant, Gerald W. Hazard et al. · Annals of Human Genetics · 1966 · 22 citations
[Partial deletion of the long arm of a group D (13-15) chromosome :Dq-].
C Laurent, Cotton Jb, A Nivelon et al. · PubMed · 1967 · 12 citations