TY - JOUR
T1 - CHARGE Association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3)
AU - De Krijger, Ronald R.
AU - Mooy, Cornelia M.
AU - Van Hemel, Jan O.
AU - Sulkers, Eric J.
AU - Kros, Johan M.
AU - Bartelings, Margot M.
AU - Govaerts, Lutgarde C.P.
PY - 1999/11
Y1 - 1999/11
N2 - We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.
AB - We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.
KW - CHARGE
KW - Coloboma
KW - Congenital heart anomaly
KW - Monosomy 21q
KW - Optic nerve cyst
KW - Trisomy 19q
UR - http://www.scopus.com/inward/record.url?scp=0032706534&partnerID=8YFLogxK
U2 - 10.1007/s100249900165
DO - 10.1007/s100249900165
M3 - Article
C2 - 10508883
AN - SCOPUS:0032706534
SN - 1093-5266
VL - 2
SP - 577
EP - 581
JO - Pediatric and Developmental Pathology
JF - Pediatric and Developmental Pathology
IS - 6
ER -