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Trisomy 18 in a patient with CHARGE association.
J Formos Med Assoc. 1995 Jan-Feb; 94(1-2):60-2.JF

Abstract

CHARGE association is the non-random association of congenital anomalies, including colobomata of the eyes, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear abnormalities. It is usually a sporadic event of unknown cause. We report a neonate with trisomy 18 and apparent CHARGE association. The associated abnormalities made the diagnosis difficult until the chromosomal results became available. Abnormalities such as clenched hands and short palpebral fissures pointed to the possibility of a chromosomal anomaly. The chromosome study revealed trisomy 18. It is important to perform chromosomal studies quickly when diagnosing a patient with apparent CHARGE association who also has other minor anomalies atypical of CHARGE.

Authors+Show Affiliations

Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7613237

Citation

Lee, W T., et al. "Trisomy 18 in a Patient With CHARGE Association." Journal of the Formosan Medical Association = Taiwan Yi Zhi, vol. 94, no. 1-2, 1995, pp. 60-2.
Lee WT, Hou JW, Yau KI, et al. Trisomy 18 in a patient with CHARGE association. J Formos Med Assoc. 1995;94(1-2):60-2.
Lee, W. T., Hou, J. W., Yau, K. I., & Wang, T. R. (1995). Trisomy 18 in a patient with CHARGE association. Journal of the Formosan Medical Association = Taiwan Yi Zhi, 94(1-2), 60-2.
Lee WT, et al. Trisomy 18 in a Patient With CHARGE Association. J Formos Med Assoc. 1995 Jan-Feb;94(1-2):60-2. PubMed PMID: 7613237.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Trisomy 18 in a patient with CHARGE association. AU - Lee,W T, AU - Hou,J W, AU - Yau,K I, AU - Wang,T R, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 60 EP - 2 JF - Journal of the Formosan Medical Association = Taiwan yi zhi JO - J Formos Med Assoc VL - 94 IS - 1-2 N2 - CHARGE association is the non-random association of congenital anomalies, including colobomata of the eyes, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear abnormalities. It is usually a sporadic event of unknown cause. We report a neonate with trisomy 18 and apparent CHARGE association. The associated abnormalities made the diagnosis difficult until the chromosomal results became available. Abnormalities such as clenched hands and short palpebral fissures pointed to the possibility of a chromosomal anomaly. The chromosome study revealed trisomy 18. It is important to perform chromosomal studies quickly when diagnosing a patient with apparent CHARGE association who also has other minor anomalies atypical of CHARGE. SN - 0929-6646 UR - https://www.unboundmedicine.com/medline/citation/7613237/Trisomy_18_in_a_patient_with_CHARGE_association_ L2 - http://www.diseaseinfosearch.org/result/2476 DB - PRIME DP - Unbound Medicine ER -