Abstract
We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q-syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.
| Original language | English |
|---|---|
| Pages (from-to) | 178-181 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 32 |
| Issue number | 2 |
| State | Published - 1989 |
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ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. / Helmuth, R. A.; Weaver, David; Wills, E. R.
In: American Journal of Medical Genetics, Vol. 32, No. 2, 1989, p. 178-181.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism
AU - Helmuth, R. A.
AU - Weaver, David
AU - Wills, E. R.
PY - 1989
Y1 - 1989
N2 - We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q-syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.
AB - We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q-syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.
UR - http://www.scopus.com/inward/record.url?scp=0024580671&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0024580671&partnerID=8YFLogxK
M3 - Article
C2 - 2494886
AN - SCOPUS:0024580671
VL - 32
SP - 178
EP - 181
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4825
IS - 2
ER -