Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17

F. Greenberg, R. F. Stratton, Lillian Lockhart, F. F. Elder, W. B. Dobyns, D. H. Ledbetter

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Recently it has been shown that most cases of the Miller-Dieker syndrome (MDS) are caused by deletion 17p13.3. All familial cases have been associated with a balanced reciprocal translocation in a carrier parent and unbalanced translocations in their affected offspring. We report a new case of familial MDS in whom the mother carries a pericentric inversion of chromosome 17. She has had two children with MDS, one of whom was shown to carry a recombinant 17 consisting of dup(17q) and del(17p). The high frequency of familial MDS and its consistent association with balanced chromosomal rearrangements in one of the parents makes it important to do high-resolution chromosome analysis on all patients with MDS and possibly all patients with lissencephaly. Finding a familial balanced rearrangement makes prenatal diagnosis of this condition feasible.

Original languageEnglish (US)
Pages (from-to)853-859
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume23
Issue number4
StatePublished - 1986
Externally publishedYes

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Classical Lissencephalies and Subcortical Band Heterotopias
Chromosomes, Human, Pair 17
Lissencephaly
Prenatal Diagnosis
Chromosomes
Parents
Mothers

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Greenberg, F., Stratton, R. F., Lockhart, L., Elder, F. F., Dobyns, W. B., & Ledbetter, D. H. (1986). Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. American Journal of Medical Genetics, 23(4), 853-859.

Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. / Greenberg, F.; Stratton, R. F.; Lockhart, Lillian; Elder, F. F.; Dobyns, W. B.; Ledbetter, D. H.

In: American Journal of Medical Genetics, Vol. 23, No. 4, 1986, p. 853-859.

Research output: Contribution to journalArticle

Greenberg, F, Stratton, RF, Lockhart, L, Elder, FF, Dobyns, WB & Ledbetter, DH 1986, 'Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17', American Journal of Medical Genetics, vol. 23, no. 4, pp. 853-859.
Greenberg, F. ; Stratton, R. F. ; Lockhart, Lillian ; Elder, F. F. ; Dobyns, W. B. ; Ledbetter, D. H. / Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. In: American Journal of Medical Genetics. 1986 ; Vol. 23, No. 4. pp. 853-859.
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