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EXTRA DICENTRIC 15pter→q21/22 CHROMOSOMES IN FIVE UNRELATED PATIENTS WITH A DISTINCT SYNDROME OF PROGRESSIVE PSYCHOMOTOR RETARDATION, SEIZURES, HYPER‐REACTIVITY AND DERMATOGLYPHIC ABNORMALITIES
Author(s) -
ZANNOTTI MARIA,
PRETO A.,
GIOVANARDI PAOLA ROSSI,
DALLAPICCOLA B.
Publication year - 1980
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.1980.tb00077.x
Subject(s) - dicentric chromosome , psychomotor retardation , hypotonia , trisomy , supernumerary , chromosomal translocation , psychomotor disorder , karyotype , psychomotor learning , genetics , dup , chromosome , joubert syndrome , biology , chromatid , derivative chromosome , pediatrics , medicine , pathology , anatomy , gene duplication , neuroscience , alternative medicine , cognition , gene , cilium
Five unrelated patients with a supernumerary chromosome derivative of chromosome 15 are described. The clinical findings in the present series of cases show a gross concordance with the data previously reported in subjects with similar aberrations and allow the delineation of a distinct syndrome. Although undetermined variation in the structure of these extra chromosomes may contribute significantly to phenotypic heterogeneity, the patients display a rather common constellation of findings, which include: absence of major malformations, mental and developmental retardation, seizures, hypotonia, behavioural disturbances, and reduced total ridge count on fingertips. Patients with partial trisomy 15q- resulting from dicentric chromosomes bear little resemblance to patients carrying 15q- chromosomes arising de novo or due to unbalanced translocations.