Clinical variability of tetrasomy 12p

G. B. Schaefer, A. Jochar, R. Muneer, W. G. Sanger

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

We describe five patients with tetrasomy 12p (one previously reported). These patients exhibit a very wide range of phenotypic features from that of classic Pallister-Killian syndrome to only mild learning disabilities with pigmentary skin changes. As such, these cases highlight the fact that tetrasomy 12p [i(12p)l and Pallister-Killian syndrome are not synonymous, although this combination of genotype and phenotype is often seen. This information is especially important in prenatally ascertained i(12p). The full spectrum of phenotypic possibilities associated with this chromosome aneuploidy should be discussed in prenatal counseling.

Original languageEnglish (US)
Pages (from-to)102-108
Number of pages7
JournalClinical Genetics
Volume51
Issue number2
StatePublished - Apr 17 1997

Fingerprint

Tetrasomy
Learning Disorders
Aneuploidy
Counseling
Chromosomes
Genotype
Phenotype
Skin
Pallister Killian syndrome

Keywords

  • Chromosomal anomalies
  • Multiple congenital anomalies
  • Pallister-Killian syndrome
  • Phenotypic variability

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Schaefer, G. B., Jochar, A., Muneer, R., & Sanger, W. G. (1997). Clinical variability of tetrasomy 12p. Clinical Genetics, 51(2), 102-108.

Clinical variability of tetrasomy 12p. / Schaefer, G. B.; Jochar, A.; Muneer, R.; Sanger, W. G.

In: Clinical Genetics, Vol. 51, No. 2, 17.04.1997, p. 102-108.

Research output: Contribution to journalArticle

Schaefer, GB, Jochar, A, Muneer, R & Sanger, WG 1997, 'Clinical variability of tetrasomy 12p', Clinical Genetics, vol. 51, no. 2, pp. 102-108.
Schaefer GB, Jochar A, Muneer R, Sanger WG. Clinical variability of tetrasomy 12p. Clinical Genetics. 1997 Apr 17;51(2):102-108.
Schaefer, G. B. ; Jochar, A. ; Muneer, R. ; Sanger, W. G. / Clinical variability of tetrasomy 12p. In: Clinical Genetics. 1997 ; Vol. 51, No. 2. pp. 102-108.
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