Terminal deletion of 6p: report of a new case.
The authors report the case of a girl with psychomotor and growth retardation, ventricular septal defect, patent ductus arteriosus, bulging forehead, prominent philtrum, low nasal bridge, inner epicanthal folds, strabismus, miosis, low set ears with prominence of antihelices, short neck, single transverse crease and camptodactyly of the fourth finger in both hands. G-banded chromosomal analysis revealed a 46, XX, del (6) (p23) chromosome constitution. A review of the phenotypes of the patients known with this chromosome deletion is presented.
Plaja
A
A
Unitat de Genètica, Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain.
Vidal
R
R
Soriano
D
D
Bou
X
X
Vendrell
T
T
Mediano
C
C
Pueyo
J M
JM
Labraña
X
X
Sarret
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype