Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature

Journal Article · Mon May 08 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560404· OSTI ID:102880

Bacino, C A; Schreck, R; Fischel-Ghodsian, N ^[1]

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1. Cedars-Sinai Medical Center, Los Angeles, CA (United States); and others

Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality. We present two strikingly similar cases of non-mosaic trisomy 22 surviving to late gestation. In this paper we emphasize the unique phenotype of this trisomy which included intrauterine growth retardation, microcephaly, broad flat nasal bridge with epicanthal folds and ocular hypertelorism, microtia, variable cleft palate, webbed neck, congenital heart defects involving anomalous great vessels, anorectal and renal anomalies, and hypoplastic distal digits with thumb anomalies. We also explore why some cases survive to late gestation. Confined placental mosaicism, a frequent finding in other lethal trisomies, has been ruled out in one of the cases. Molecular studies done to assess the parental origin of the extra chromosome in the other case showed that the non-disjunction originated during maternal meiosis II. Parental origin of the extra chromosome does not seem to play a role in late survival for trisomy 22. 36 refs., 4 figs., 3 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 102880
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 56; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
FETUSES
FLUORESCENCE
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
LETHAL MUTATIONS
MOSAICISM
NON-DISJUNCTION
PHENOTYPE
PROBES
SPONTANEOUS MUTATIONS