TY - JOUR
T1 - Duplication 6q22→qter
T2 - Definition of the phenotype
AU - Conrad, Beth A.
AU - Higgins, Rodney R.
AU - Pierpont, Mary Ella M.
PY - 1998/6/30
Y1 - 1998/6/30
N2 - We report on a girl with duplication of 6q22.32 → qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay.
AB - We report on a girl with duplication of 6q22.32 → qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay.
KW - 6q trisomy
KW - Chromosome 6 duplication
KW - Ebstein's malformation of tricuspid valve
KW - Renal hypoplasia
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U2 - 10.1002/(SICI)1096-8628(19980630)78:2<123::AID-AJMG5>3.0.CO;2-P
DO - 10.1002/(SICI)1096-8628(19980630)78:2<123::AID-AJMG5>3.0.CO;2-P
M3 - Article
C2 - 9674901
AN - SCOPUS:0032580787
SN - 0148-7299
VL - 78
SP - 123
EP - 126
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -
