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)

Ronald R. De Krijger, Cornelia M. Mooy, Jan O. Van Hemel, Eric J. Sulkers, Johan M. Kros, Margot M. Bartelings, Lutgarde C.P. Govaerts

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23 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)577-581
Aantal pagina's5
TijdschriftPediatric and Developmental Pathology
Volume2
Nummer van het tijdschrift6
DOI's
StatusGepubliceerd - nov. 1999
Extern gepubliceerdJa

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