Terminal deletion 6p23: a case report.
We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter----p23:) chromosome constitution.
Kormann-Bortolotto
M H
MH
Departamento de Morfologia, Escola Paulista de Medicina, São Paulo, Brasil.
Farah
L M
LM
Soares
D
D
Corbani
M
M
Müller
R
R
Adell
A C
AC
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D012026:Reflex, Stretch; D013131:Spine / Q000002:abnormalities