Abstract
A patient with duplication of a short segment of 3q (3q21→26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 187-192 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics |
| Volume | 10 |
| Issue number | 2 |
| DOIs | |
| State | Published - Dec 1 1981 |
| Externally published | Yes |
Fingerprint
All Science Journal Classification (ASJC) codes
- Genetics(clinical)
Cite this
}
Duplication 3q : Severe manifestations in an infant with duplication of a short segment of 3q. / Rosenfeld, W.; Verma, R. S.; Jhaveri, R. C.; Estrada, R.; Evans, Hugh; Dosik, H.
In: American Journal of Medical Genetics, Vol. 10, No. 2, 01.12.1981, p. 187-192.Research output: Contribution to journal › Article
TY - JOUR
T1 - Duplication 3q
T2 - Severe manifestations in an infant with duplication of a short segment of 3q
AU - Rosenfeld, W.
AU - Verma, R. S.
AU - Jhaveri, R. C.
AU - Estrada, R.
AU - Evans, Hugh
AU - Dosik, H.
PY - 1981/12/1
Y1 - 1981/12/1
N2 - A patient with duplication of a short segment of 3q (3q21→26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.
AB - A patient with duplication of a short segment of 3q (3q21→26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.
UR - http://www.scopus.com/inward/record.url?scp=0019863993&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0019863993&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320100212
DO - 10.1002/ajmg.1320100212
M3 - Article
C2 - 7315875
AN - SCOPUS:0019863993
VL - 10
SP - 187
EP - 192
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4868
IS - 2
ER -