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Ho CK, Henderson KC, Bowyer FP, et al. A patient with partial duplication 2q and partial deficiency 11q. Am J Med Genet. 1987;28(3):575-9doi: 10.1002/ajmg.1320280305.
Ho, C. K., Henderson, K. C., Bowyer, F. P., Eilers, K. B., & Andrews, L. G. (1987). A patient with partial duplication 2q and partial deficiency 11q. American journal of medical genetics, 28(3), 575-9. https://doi.org/10.1002/ajmg.1320280305
Ho, C K, et al. "A patient with partial duplication 2q and partial deficiency 11q." American journal of medical genetics vol. 28,3 (1987): 575-9. doi: https://doi.org/10.1002/ajmg.1320280305
Ho CK, Henderson KC, Bowyer FP, Eilers KB, Andrews LG. A patient with partial duplication 2q and partial deficiency 11q. Am J Med Genet. 1987 Nov;28(3):575-9. doi: 10.1002/ajmg.1320280305. PMID: 3322008.
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Am J Med Genet. 1987 Nov;28(3):575-9. doi: 10.1002/ajmg.1320280305.

A patient with partial duplication 2q and partial deficiency 11q.

American journal of medical genetics

C K Ho, K C Henderson, F P Bowyer, K B Eilers, L G Andrews

Affiliations

  1. Department of Pediatrics, Medical Center of Central Georgia, Macon 31201.

PMID: 3322008 DOI: 10.1002/ajmg.1320280305

Abstract

A patient with partial duplication 2q and partial deficiency 11q is reported. The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. Chromosome analysis showed the following karyotype: 46,XY,der11,t(2:11)(q32.2;q25)pat.

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