TY - JOUR
T1 - Infant with multiple congenital anomalies and deletion (9)(q34.3)
AU - Schimmenti, L. A.
AU - Berry, S. A.
AU - Tuchman, M.
AU - Hirsch, B.
PY - 1994
Y1 - 1994
N2 - We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down- slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3
AB - We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down- slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3
KW - chromosome 9
KW - chromosome deletion
KW - developmental delay
KW - multiple congenital malformation
KW - partial monosomy 9q
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U2 - 10.1002/ajmg.1320510211
DO - 10.1002/ajmg.1320510211
M3 - Article
C2 - 7522397
AN - SCOPUS:0028228208
SN - 0148-7299
VL - 51
SP - 140
EP - 142
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -