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January 1968

A Case of?6p- Chromosomal Aberration

Author Affiliations

From the Clinique de Génétique Médicale Unité de Recherche INSERM, Hospital des Enfants-Malades, Paris (Dr. De Grouchy), Centre Hospitalier, Versailles (Dr. Veslot), Centre Hospitalier, Saint Germain en Laye (Drs. Bonnette and Roidot).

Am J Dis Child. 1968;115(1):93-99. doi:10.1001/archpedi.1968.02100010095019

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.1,2 According to the newly proposed nomenclature of the Chicago Conference3 this chromosome anomaly is refered to as "18p—". Subsequently the cri du chat or 5p— syndrome was reported by Lejeune et al4 and the 18q— syndrome by De Grouchy et al5 and Lejeune et al.6 Recently, Laurent et al7 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).

Report of a Case  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