[Proximal 4p syndrome in a 7-year-old moderately retarded girl].
A 7 year old girl in whom an interstitial deletion of the short arm of a chromosome no. 4 had been discovered [46, XX, del(4)(p15.2p16)] is moderately retarded and exhibits some mild craniofacial dysmorphies. Cardiological examination revealed a PDA and an ASD. From seven similar cases published up to now a typical phenotype cannot be concluded. Dermatoglyphics show a remarkable frequency of digital arches but the diagnostic significance is questioned by this observation.
Institut für Humangenetik, Friedrich-Alexander-Universität Erlangen-Nürnberg.
M
M
Volleth
J
J
Erhardt
E
E
Schmitzer
R A
RA
Pfeiffer
D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D003878:Dermatoglyphics; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009460:Neurologic Examination; D010641:Phenotype; D013577:Syndrome