Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)

Márta Czakó, Mariluce Riegel, Eva Morava-Kozicz, Albert Schinzel, György Kosztolányi

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

A girl with psychomotor retardation and a pattern of minor anomalies was found to have a slightly enlarged short arm of chromosome 18 by conventional GTG-banded chromosome examination. The 18p+chromosome has also been found in the father. FISH studies using chromosome 18-and chromosome 20-specific painting probes confirmed a reciprocal whole arm translocation between chromosomes 18 and 20 in the father, resulting in monosomy of the short arm of chromosome 18 and trisomy of the short arm chromosome 20 in the patient. FISH analysis using a chromosome 18 alpha-satellite-specific probe showed a reduced signal intensity. The patient presented with a flat, oval face, upslanting palpebral fissures, periorbital fullness, and mental retardation; she also had chronic diarrhea with milk protein intolerance and juvenile rheumatoid arthritis at age 5 years. Juvenile rheumatoid arthritis, like several other immunologic disorders, has occasionally been reported in patients with deletion of 18p, and thus most likely loss of a gene or genes on 18p is responsible for various immunologic disorders occurring in these patients.

Original languageEnglish (US)
Pages (from-to)226-228
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume108
Issue number3
DOIs
StatePublished - Mar 15 2002
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 18
Rheumatoid Arthritis
Chromosomes, Human, Pair 20
Juvenile Arthritis
Fathers
Arm
Chromosomes
Monosomy
Paintings
Milk Proteins
Trisomy
Eyelids
Intellectual Disability
Genes
Diarrhea

Keywords

  • Chromosome 18 short arm monosomy
  • Chromosome 20 short arm trisomy
  • Juvenile polyarthritis
  • Whole arm translocation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). / Czakó, Márta; Riegel, Mariluce; Morava-Kozicz, Eva; Schinzel, Albert; Kosztolányi, György.

In: American Journal of Medical Genetics, Vol. 108, No. 3, 15.03.2002, p. 226-228.

Research output: Contribution to journalArticle

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