Fryns syndrome phenotype and trisomy 22

Journal Article · Tue Jan 02 00:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<68::AID-AJMG13>3.0.CO;2-U· OSTI ID:447702

Ladonne, J M; Gaillard, D; Carre-Pigeon, F; Gabriel, R ^[1]

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1. INSERM, Reims (France)

Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns Syndrome: Diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is the second report of congenital diaphragmatic hernia in trisomy 22. This case demonstrates the importance of karyotyping malformed fetuses or newborns, even if a nonchromosome syndrome seems identifiable on clinical grounds. To date, at least 10 cases of Fryns syndrome have been reported without chromosome analysis. 32 refs., 2 figs.

• OSTI ID: 447702
• Journal Information: American Journal of Medical Genetics, Vol. 61, Issue 1; Other Information: PBD: 2 Jan 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
FETUSES
DEATH
PHENOTYPE
KARYOTYPE
CONGENITAL MALFORMATIONS
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING