A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype

H. El-Shanti, N. Khasawneh, D. Hulsberg, H. Major, S. Patil

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p and trisomy 12q is well described in the literature. We report here, the rare occurrence of a liveborn with free and de novo trisomy 12, albeit not the whole chromosome. The clinical description of this infant includes characteristics of trisomy 12p and trisomy 12q syndromes. Few additional anomalies present in the infant are unaccounted for by both syndromes. We anticipate that these characteristics are caused by trisomy 12q13, which to our knowledge has not been reported in a trisomy before.

Original languageEnglish
Pages (from-to)175-180
Number of pages6
JournalAnnales de Genetique
Volume40
Issue number3
Publication statusPublished - 1997
Externally publishedYes

Fingerprint

Trisomy
Phenotype
Chromosomes
Incidence
12p trisomy Chromosome 12
Trisomy 12q Chromosome 12

Keywords

  • De novo
  • Neck projection
  • Trisomy 12

ASJC Scopus subject areas

  • Genetics

Cite this

El-Shanti, H., Khasawneh, N., Hulsberg, D., Major, H., & Patil, S. (1997). A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype. Annales de Genetique, 40(3), 175-180.

A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype. / El-Shanti, H.; Khasawneh, N.; Hulsberg, D.; Major, H.; Patil, S.

In: Annales de Genetique, Vol. 40, No. 3, 1997, p. 175-180.

Research output: Contribution to journalArticle

El-Shanti, H, Khasawneh, N, Hulsberg, D, Major, H & Patil, S 1997, 'A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype', Annales de Genetique, vol. 40, no. 3, pp. 175-180.
El-Shanti H, Khasawneh N, Hulsberg D, Major H, Patil S. A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype. Annales de Genetique. 1997;40(3):175-180.
El-Shanti, H. ; Khasawneh, N. ; Hulsberg, D. ; Major, H. ; Patil, S. / A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype. In: Annales de Genetique. 1997 ; Vol. 40, No. 3. pp. 175-180.
@article{7c95808f0bdf4efd9d272bccc5a784f3,
title = "A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype",
abstract = "Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p and trisomy 12q is well described in the literature. We report here, the rare occurrence of a liveborn with free and de novo trisomy 12, albeit not the whole chromosome. The clinical description of this infant includes characteristics of trisomy 12p and trisomy 12q syndromes. Few additional anomalies present in the infant are unaccounted for by both syndromes. We anticipate that these characteristics are caused by trisomy 12q13, which to our knowledge has not been reported in a trisomy before.",
keywords = "De novo, Neck projection, Trisomy 12",
author = "H. El-Shanti and N. Khasawneh and D. Hulsberg and H. Major and S. Patil",
year = "1997",
language = "English",
volume = "40",
pages = "175--180",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",
number = "3",

}

TY - JOUR

T1 - A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype

AU - El-Shanti, H.

AU - Khasawneh, N.

AU - Hulsberg, D.

AU - Major, H.

AU - Patil, S.

PY - 1997

Y1 - 1997

N2 - Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p and trisomy 12q is well described in the literature. We report here, the rare occurrence of a liveborn with free and de novo trisomy 12, albeit not the whole chromosome. The clinical description of this infant includes characteristics of trisomy 12p and trisomy 12q syndromes. Few additional anomalies present in the infant are unaccounted for by both syndromes. We anticipate that these characteristics are caused by trisomy 12q13, which to our knowledge has not been reported in a trisomy before.

AB - Individuals with free and total trisomy 12 are rare and always mosaic. Incidences of partial trisomy 12 are more frequent and are classified into trisomy 12p and trisomy 12q. The phenotype of both trisomy 12p and trisomy 12q is well described in the literature. We report here, the rare occurrence of a liveborn with free and de novo trisomy 12, albeit not the whole chromosome. The clinical description of this infant includes characteristics of trisomy 12p and trisomy 12q syndromes. Few additional anomalies present in the infant are unaccounted for by both syndromes. We anticipate that these characteristics are caused by trisomy 12q13, which to our knowledge has not been reported in a trisomy before.

KW - De novo

KW - Neck projection

KW - Trisomy 12

UR - http://www.scopus.com/inward/record.url?scp=0030690976&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030690976&partnerID=8YFLogxK

M3 - Article

VL - 40

SP - 175

EP - 180

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 3

ER -