Tags

Type your tag names separated by a space and hit enter

Trisomy 16p in a liveborn infant and review of trisomy 16p.
Am J Med Genet. 1992 Feb 01; 42(3):316-9.AJ

Abstract

We report on an infant boy with duplication of part of 16p and partial deficiency of 9p: 46,XY, -9, + der(9)t(9;16)(p24;p13.1)mat. The child has the typical phenotype of dup(16p) even though the extra piece of 16p is small (16p13.1----pter). Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a thin vermilion border of the upper lip, and left renal dysgenesis. We review 16p duplications.

Authors+Show Affiliations

Children's Mercy Hospital, Kansas City, Missouri.No affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1536169

Citation

O'Connor, T A., and R R. Higgins. "Trisomy 16p in a Liveborn Infant and Review of Trisomy 16p." American Journal of Medical Genetics, vol. 42, no. 3, 1992, pp. 316-9.
O'Connor TA, Higgins RR. Trisomy 16p in a liveborn infant and review of trisomy 16p. Am J Med Genet. 1992;42(3):316-9.
O'Connor, T. A., & Higgins, R. R. (1992). Trisomy 16p in a liveborn infant and review of trisomy 16p. American Journal of Medical Genetics, 42(3), 316-9.
O'Connor TA, Higgins RR. Trisomy 16p in a Liveborn Infant and Review of Trisomy 16p. Am J Med Genet. 1992 Feb 1;42(3):316-9. PubMed PMID: 1536169.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Trisomy 16p in a liveborn infant and review of trisomy 16p. AU - O'Connor,T A, AU - Higgins,R R, PY - 1992/2/1/pubmed PY - 1992/2/1/medline PY - 1992/2/1/entrez SP - 316 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 42 IS - 3 N2 - We report on an infant boy with duplication of part of 16p and partial deficiency of 9p: 46,XY, -9, + der(9)t(9;16)(p24;p13.1)mat. The child has the typical phenotype of dup(16p) even though the extra piece of 16p is small (16p13.1----pter). Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a thin vermilion border of the upper lip, and left renal dysgenesis. We review 16p duplications. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1536169/Trisomy_16p_in_a_liveborn_infant_and_review_of_trisomy_16p_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=42&issue=3&spage=316 DB - PRIME DP - Unbound Medicine ER -