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, H.
AU - Dosik, H.
PY - 1981
Y1 - 1981
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.
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U2 - 10.1002/ajmg.1320100212
DO - 10.1002/ajmg.1320100212
M3 - Article
C2 - 7315875
AN - SCOPUS:0019863993
SN - 0148-7299
VL - 10
SP - 187
EP - 192
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 2
ER -