TY - JOUR
T1 - Duplication 17q mosaicism
T2 - An infant with features of Ellis-van Creveld syndrome
AU - Serotkin, A.
AU - Stamberg, J.
AU - Waber, L.
PY - 1988
Y1 - 1988
N2 - We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q2·1→qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van-Creveld syndrome.
AB - We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q2·1→qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van-Creveld syndrome.
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U2 - 10.1136/jmg.25.4.258
DO - 10.1136/jmg.25.4.258
M3 - Article
C2 - 3367352
AN - SCOPUS:0023943164
SN - 0022-2593
VL - 25
SP - 258
EP - 260
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 4
ER -