Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Noralane Morey Lindor, S. M. Jalal, Stephen N Thibodeau, D. Bonde, K. L. Sauser, P. S. Karnes

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Trisomy 16 is the most common trisomy in spontaneous abortions and is usually, if not always, lethal in the nonmosaic state. We report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. At birth, the infant was growth retarded and mildly dysmorphic. At age 14 months she was developmentally normal and had facial asymmetry. Her length, weight and head circumference were normal. Pure trisomy 16 was found in cells from the placenta. A normal female karyotype was found in lymphocytes from the infant. Skin fibroblasts revealed a trisomy 16 karyotype in 6 of 30 cells. Molecular analysis showed maternal uniparental heterodisomy, indicating that the trisomic conceptus arose from a nondisjunction of maternal meiosis. Fibroblasts may be the tissue of choice for detection of low-level trisomy 16 mosaicism.

Original languageEnglish (US)
Pages (from-to)185-189
Number of pages5
JournalClinical Genetics
Volume44
Issue number4
StatePublished - 1993

Fingerprint

Chromosomes, Human, Pair 16
Mothers
Mosaicism
Karyotype
Fibroblasts
Uniparental Disomy
Facial Asymmetry
Amniocentesis
Trisomy
Meiosis
Spontaneous Abortion
Placenta
Head
Trisomy Chromosome 16
Parturition
Lymphocytes
Weights and Measures
Pregnancy
Skin
Growth

Keywords

  • Chromosome mosaicism
  • Dolichocephaly
  • Intrauterine growth retardation
  • Trisomy 16
  • Uniparental disomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Lindor, N. M., Jalal, S. M., Thibodeau, S. N., Bonde, D., Sauser, K. L., & Karnes, P. S. (1993). Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16. Clinical Genetics, 44(4), 185-189.

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16. / Lindor, Noralane Morey; Jalal, S. M.; Thibodeau, Stephen N; Bonde, D.; Sauser, K. L.; Karnes, P. S.

In: Clinical Genetics, Vol. 44, No. 4, 1993, p. 185-189.

Research output: Contribution to journalArticle

Lindor, NM, Jalal, SM, Thibodeau, SN, Bonde, D, Sauser, KL & Karnes, PS 1993, 'Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16', Clinical Genetics, vol. 44, no. 4, pp. 185-189.
Lindor, Noralane Morey ; Jalal, S. M. ; Thibodeau, Stephen N ; Bonde, D. ; Sauser, K. L. ; Karnes, P. S. / Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16. In: Clinical Genetics. 1993 ; Vol. 44, No. 4. pp. 185-189.
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