American Journal of Medical Genetics · 1990 · 31 citations · 10 references
Developmental AnomalyThumb HypoplasiaDevelopmental BiologyClinical Case ReportGenetic DisorderGeneticsCongenital DisordersCraniofacial AnomaliesPalate SurgeryCleft PalateCraniofacial SurgeryTerminal Deletion 6P23MedicineCraniofacial DisorderEmbryologyCleft LipSkeletal Anomalies
Abstract 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.
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EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9
Alan Fryer, J. M. Connor, S. Povey et al. · The Lancet · 1987 · 514 citations
Mental retardation and congenital malformations associated with a ring chromosome 6
K. Fried, M Rosenblatt, G Mundel et al. · Clinical Genetics · 1975 · 42 citations
Ring chromosome 6 in a malformed boy
Fabio Salamanca‐Gonez, S Nava, S Armendares · Clinical Genetics · 1975 · 37 citations
Ring chromosome 6: Case report and review of literature
K. Ramachandra Kini, Daniel L. Van Dyke, Lester Weiss et al. · Human Genetics · 1979 · 37 citations