Abstract
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 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.
| Original language | English |
|---|---|
| Pages (from-to) | 235-242 |
| Number of pages | 8 |
| Journal | Journal of Mental Deficiency Research |
| Volume | 24 |
| Issue number | 4 |
| Publication status | Published - 1980 |
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ASJC Scopus subject areas
- Psychiatry and Mental health
Cite this
Extra dicentric 15pter→q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities. / Zannotti, M.; Preto, A.; Giovanardi, P. R.; Dallapiccola, B.
In: Journal of Mental Deficiency Research, Vol. 24, No. 4, 1980, p. 235-242.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Extra dicentric 15pter→q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities
AU - Zannotti, M.
AU - Preto, A.
AU - Giovanardi, P. R.
AU - Dallapiccola, B.
PY - 1980
Y1 - 1980
N2 - 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 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.
AB - 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 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0019258494&partnerID=8YFLogxK
M3 - Article
C2 - 7218339
AN - SCOPUS:0019258494
VL - 24
SP - 235
EP - 242
JO - Journal of Mental Deficiency Research
JF - Journal of Mental Deficiency Research
SN - 0022-264X
IS - 4
ER -