Distal 19q duplication

Jonathan (Jon) Zonana, Michael G. Brown, R. Ellen Magenis

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Two brothers with a distal 19q duplication due to a maternal balanced reciprocal translocation were observed. Clinical features included intrauterine and postnatal growth retardation, microcephaly, and mental retardation with seizures. Dysmorphic facies consisted of coarse hair with a high frontal hairline, short philtrum and nose, flat nasal root, and a broad mouth with downturned commissures. Both routine G-banded and high-resolution prometaphase chromosome studies were employed in evaluation of the family. The dysmorphic features and karyotypes of the affected brothers are compared with those of the two previously reported families with 19q duplication, and a common distal-19q phenotypes is suggested.

Original languageEnglish (US)
Pages (from-to)267-270
Number of pages4
JournalHuman Genetics
Volume60
Issue number3
DOIs
StatePublished - May 1982
Externally publishedYes

Fingerprint

Nose
Prometaphase
Microcephaly
Fetal Growth Retardation
Lip
Karyotype
Intellectual Disability
Mouth
Seizures
Chromosomes
Mothers
Phenotype
Trisomy 19q Chromosome 19

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Zonana, J. J., Brown, M. G., & Magenis, R. E. (1982). Distal 19q duplication. Human Genetics, 60(3), 267-270. https://doi.org/10.1007/BF00303015

Distal 19q duplication. / Zonana, Jonathan (Jon); Brown, Michael G.; Magenis, R. Ellen.

In: Human Genetics, Vol. 60, No. 3, 05.1982, p. 267-270.

Research output: Contribution to journalArticle

Zonana, JJ, Brown, MG & Magenis, RE 1982, 'Distal 19q duplication', Human Genetics, vol. 60, no. 3, pp. 267-270. https://doi.org/10.1007/BF00303015
Zonana, Jonathan (Jon) ; Brown, Michael G. ; Magenis, R. Ellen. / Distal 19q duplication. In: Human Genetics. 1982 ; Vol. 60, No. 3. pp. 267-270.
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