Further delineation of 7p trisomy. Case report and review of literature.
The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This entity, although several lengths of duplicated fragment or mosaicism, is characterized by high and large forehead flattened at the centre due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern. The phenotypic pattern seems to be similar in all the patients, although the association of anomalies appears to be correlated to the extension of the duplicated fragments.
Pallotta
R
R
Cattedra di Pediatria Preventiva e Sociale, Università G. d'Annunzio, Chieti, Italia.
Dalprà
L
L
Fusilli
P
P
Zuffardi
O
O
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics*; D003878:Dermatoglyphics; D005188:False Negative Reactions; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy